Human mutation - JoVE Visualize

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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.

Human Mutation|March 3, 1998

Population genetic diversity in relation to microsatellite heterogeneityB Brinkmann, A Junge, E Meyer, et al.

Human Mutation|May 26, 1998

Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline patternJ A Heit, E C Thorland, R P Ketterling, et al.

Human Mutation|May 26, 1998

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing lossD A Scott, M L Kraft, R Carmi, et al.

Human Mutation|May 26, 1998

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagenA P Sarafova, H Choi, A Forlino, et al.

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Showing results (81-90 of 5,760) with videos related to

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Pageof 576

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.

Human Mutation|March 3, 1998

Population genetic diversity in relation to microsatellite heterogeneityB Brinkmann, A Junge, E Meyer, et al.

Human Mutation|May 26, 1998

Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline patternJ A Heit, E C Thorland, R P Ketterling, et al.

Human Mutation|May 26, 1998

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing lossD A Scott, M L Kraft, R Carmi, et al.

Human Mutation|May 26, 1998

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagenA P Sarafova, H Choi, A Forlino, et al.

Pageof 576