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Human mutation

Showing results (1461-1470 of 5,734) with videos related to

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Human Mutation|January 1, 1997
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary diseaseK J Friedman, R A Heim, M R Knowles, et al.
Human Mutation|January 1, 1997
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemiaI N Day, R A Whittall, S D O'Dell, et al.
Human Mutation|January 1, 1997
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutationsC Hayward, M E Porteous, D J Brock
Human Mutation|January 1, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS geneU Felbor, H Schilling, B H Weber
Human Mutation|January 1, 1997
Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndromeT Ariga, M Yamada, S Ito, et al.
Human Mutation|January 1, 1997
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase geneW E Schreiber, X Zhang, J Senz, et al.
Human Mutation|January 1, 1997
Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoformsS Bala, Z Sulekova, W G Ballhausen
Human Mutation|January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeS Bunge, W J Kleijer, A Tylki-Szymanska, et al.
Human Mutation|March 3, 1998
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeatM Yamamoto, M P Keller, T Yasuda, et al.
Human Mutation|March 3, 1998
Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumoursT F Homfray, S E Cottrell, M Ilyas, et al.
Pageof 574

Showing results (1461-1470 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|January 1, 1997
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary diseaseK J Friedman, R A Heim, M R Knowles, et al.
Human Mutation|January 1, 1997
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemiaI N Day, R A Whittall, S D O'Dell, et al.
Human Mutation|January 1, 1997
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutationsC Hayward, M E Porteous, D J Brock
Human Mutation|January 1, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS geneU Felbor, H Schilling, B H Weber
Human Mutation|January 1, 1997
Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndromeT Ariga, M Yamada, S Ito, et al.
Human Mutation|January 1, 1997
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase geneW E Schreiber, X Zhang, J Senz, et al.
Human Mutation|January 1, 1997
Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoformsS Bala, Z Sulekova, W G Ballhausen
Human Mutation|January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeS Bunge, W J Kleijer, A Tylki-Szymanska, et al.
Human Mutation|March 3, 1998
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeatM Yamamoto, M P Keller, T Yasuda, et al.
Human Mutation|March 3, 1998
Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumoursT F Homfray, S E Cottrell, M Ilyas, et al.
Pageof 574