Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 1
Results: 18
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
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- Human Mutation, 2005, v. 25, n. 1, p. 100, doi. 10.1002/humu.9301
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HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene.
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- Human Mutation, 2005, v. 25, n. 1, p. 1, doi. 10.1002/humu.20112
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Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee ( Pan troglodytes).
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- Human Mutation, 2005, v. 25, n. 1, p. 45, doi. 10.1002/humu.20116
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The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
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- Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9297
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Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene.
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- Human Mutation, 2005, v. 25, n. 1, p. 99, doi. 10.1002/humu.9300
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Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
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- Human Mutation, 2005, v. 25, n. 1, p. 64, doi. 10.1002/humu.20111
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A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).
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- Human Mutation, 2005, v. 25, n. 1, p. 72, doi. 10.1002/humu.20115
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Phenotology of disease-linked proteins.
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- Human Mutation, 2005, v. 25, n. 1, p. 90, doi. 10.1002/humu.20118
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The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
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- Human Mutation, 2005, v. 25, n. 1, p. 38, doi. 10.1002/humu.20110
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Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors.
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- Human Mutation, 2005, v. 25, n. 1, p. 18, doi. 10.1002/humu.20121
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Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.
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- Human Mutation, 2005, v. 25, n. 1, p. 6, doi. 10.1002/humu.20114
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The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients.
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- Human Mutation, 2005, v. 25, n. 1, p. 28, doi. 10.1002/humu.20107
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Molecular and muscle pathology in a series of caveolinopathy patients.
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- Human Mutation, 2005, v. 25, n. 1, p. 82, doi. 10.1002/humu.20119
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Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.
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- Human Mutation, 2005, v. 25, n. 1, p. 99, doi. 10.1002/humu.9299
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Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
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- Human Mutation, 2005, v. 25, n. 1, p. 100, doi. 10.1002/humu.9302
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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
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- Human Mutation, 2005, v. 25, n. 1, p. 56, doi. 10.1002/humu.20113
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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
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- Human Mutation, 2005, v. 25, n. 1, p. 22, doi. 10.1002/humu.20124
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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).
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- Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298
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- Article