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Bruton tyrosine kinase gene mutations in Argentina (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #602 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/602.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9131
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- Publication type:
- Article
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #603 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132
- By:
- Publication type:
- Article
Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #605 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/605.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9134
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- Publication type:
- Article
Mutation analysis in 16 patients with mtDNA depletion (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #606 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
- By:
- Publication type:
- Article
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133
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- Publication type:
- Article
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 401, doi. 10.1002/humu.10202
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- Publication type:
- Article
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset (Communicated by Arnold Munnich) Online Citation: Human Mutation, Mutation in Brief #589 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 444
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- Publication type:
- Article
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #588 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/588.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 400, doi. 10.1002/humu.9117
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- Article
The molecular basis of phenylalanine hydroxylase deficiency in Croatia (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #586 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/586.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9115
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- Publication type:
- Article
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 379, doi. 10.1002/humu.10199
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- Publication type:
- Article
Identification of novel SNPs in the interleukin 6 receptor gene (IL6R) (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #601 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/601.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9130
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- Publication type:
- Article
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #600 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129
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- Publication type:
- Article
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #599 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128
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- Publication type:
- Article
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #598 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/598.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9127
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- Publication type:
- Article
Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #597 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126
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- Publication type:
- Article
Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #596 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125
- By:
- Publication type:
- Article
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #595 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/595.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 447, doi. 10.1002/humu.9124
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- Publication type:
- Article
Genetic analysis of familial colorectal cancer in Israeli Arabs (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #594 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/594.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9123
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- Publication type:
- Article
Identification of seven novel mutations in the GAN gene (Communicated by Jacques Beckmann) Online Citation: Human Mutation, Mutation in Brief #593 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/593.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9122
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- Publication type:
- Article
Identification of six novel MSH2 and MLH1 germline mutations in HNPCC (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #592 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/592.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9121
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- Publication type:
- Article
A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #591 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/591.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9120
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- Publication type:
- Article
Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #590 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/590.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 444, doi. 10.1002/humu.9119
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- Publication type:
- Article
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #587 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/587.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 399, doi. 10.1002/humu.9116
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- Publication type:
- Article
The molecular basis of phenylketonuria in Lithuania (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #584 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/584.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9113
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- Publication type:
- Article
Focus on the molecular genetics of phenylketonuria (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 331, doi. 10.1002/humu.10208
- By:
- Publication type:
- Article
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #604 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 452, doi. 10.1002/humu.9133
- By:
- Publication type:
- Article
The molecular basis of phenylketonuria in Latvia (For the PKU Special Issue) Online Citation: Human Mutation, Mutation in Brief #585 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/585.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9114
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- Publication type:
- Article
PAHdb 2003: What a locus-specific knowledgebase can do (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 333, doi. 10.1002/humu.10200
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- Publication type:
- Article
Phenylketonuria: Genotypephenotype correlations based on expression analysis of structural and functional mutations in PAH (For the PKU special issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 370, doi. 10.1002/humu.10198
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- Publication type:
- Article
A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205
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- Publication type:
- Article
Phenylketonuria mutations in Europe (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 345, doi. 10.1002/humu.10192
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- Publication type:
- Article
Mitochondrial DNA mutation correlates with stage progression and prognosis in non-small cell lung cancer (Communicated by Richard G.H. Cotton).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 441, doi. 10.1002/humu.10196
- By:
- Publication type:
- Article
Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla?Leon: Identification of four novel truncating mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #597 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126
- By:
- Publication type:
- Article
Six novel ATM mutations in Italian patients with classical ataxia?telangiectasiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #600 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129
- By:
- Publication type:
- Article
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 357, doi. 10.1002/humu.10197
- By:
- Publication type:
- Article
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (For the PKU Special Issue).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 387, doi. 10.1002/humu.10195
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- Publication type:
- Article
Mutation analysis in 16 patients with mtDNA depletionCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #606 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
- By:
- Publication type:
- Article
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168
- By:
- Publication type:
- Article
Human growth hormone 1 (GH1) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v21.html)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 408, doi. 10.1002/humu.10167
- By:
- Publication type:
- Article
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #603 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132
- By:
- Publication type:
- Article
Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetesCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #605 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/605.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9134
- By:
- Publication type:
- Article
Genetic analysis of familial colorectal cancer in Israeli ArabsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #594 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/594.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9123
- By:
- Publication type:
- Article
Identification of seven novel mutations in the GAN geneCommunicated by Jacques BeckmannOnline Citation: Human Mutation, Mutation in Brief #593 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/593.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9122
- By:
- Publication type:
- Article
Bruton tyrosine kinase gene mutations in ArgentinaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #602 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/602.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9131
- By:
- Publication type:
- Article
Identification of novel SNPs in the interleukin 6 receptor gene (IL6R)Communicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #601 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/601.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9130
- By:
- Publication type:
- Article
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #599 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128
- By:
- Publication type:
- Article
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #595 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/595.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 447, doi. 10.1002/humu.9124
- By:
- Publication type:
- Article
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in SlovakiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #598 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/598.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9127
- By:
- Publication type:
- Article
Focus on the molecular genetics of phenylketonuriaFor the PKU Special Issue.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 331, doi. 10.1002/humu.10208
- By:
- Publication type:
- Article
Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #596 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125
- By:
- Publication type:
- Article