Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 4
Results: 16
Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #656 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/656.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 341, doi. 10.1002/humu.9185
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Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions<FN ID="fn1">Communicated by Jean-Louis Mandel</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #655 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/655.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 340, doi. 10.1002/humu.9184
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CFTR genotypes in patients with normal or borderline sweat chloride levels<FN ID="fn1">Communicated by Xavier Estivill</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #654 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/654.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 340, doi. 10.1002/humu.9183
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The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever<FN ID="fn1">Communicated by Dvorah Abeliovich</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #653 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/653.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 339, doi. 10.1002/humu.9182
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Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations<FN ID="fn1">Communicated by Nobuyoshi Shimizu</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #652 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/652.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 339, doi. 10.1002/humu.9181
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Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #651 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/651.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 338, doi. 10.1002/humu.9180
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Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #650 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/650.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 338, doi. 10.1002/humu.9179
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Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica<FN ID="fn1">Communicated by Michel Goossens</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #649 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/649.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 337
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Mutational analysis of the AGL gene: Five novel mutations in GSD III patients <FN ID="fn1">Communicated by William S. Sly</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #648 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/648.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177
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RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #647 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/647.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9176
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Rapid detection of β-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC<FN ID="fn1">Communicated by Peter Oefner</FN>.
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- Human Mutation, 2003, v. 22, n. 4, p. 326, doi. 10.1002/humu.10265
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MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency<FN ID="fn1">Communicated by Iain McIntosh</FN>.
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- Human Mutation, 2003, v. 22, n. 4, p. 288, doi. 10.1002/humu.10264
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects<FN ID="fn1">Communicated by Ellen Solomon</FN>.
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- Human Mutation, 2003, v. 22, n. 4, p. 301, doi. 10.1002/humu.10260
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Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders<FN ID="fn1">Communicated by Mireille Claustres</FN><FN ID="fn2">This article is a US government work, and, as such, is in the public domain of the United States of America.</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 261, doi. 10.1002/humu.10259
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Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease<FN ID="fn1">Communicated by Richard G.H. Cotton</FN>.
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- Human Mutation, 2003, v. 22, n. 4, p. 275, doi. 10.1002/humu.10258
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Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1<FN ID="fn1">Communicated by Mark H. Paalman</FN>.
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- Human Mutation, 2003, v. 22, n. 4, p. 313, doi. 10.1002/humu.10255
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