Human mutation - JoVE Visualize

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Human Mutation|January 29, 2000

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. OnlineM G Miano, D Valverde, T Solans, et al.

Human Mutation|January 29, 2000

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. OnlineT Bienvenu, S Bousquet, D Vidaud, et al.

Human Mutation|April 29, 1999

Low yield of polymorphisms from EST blast searching: analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1L Forsberg, U de Faire, R Morgenstern

Human Mutation|April 29, 1999

Novel KCNQ1 and HERG missense mutations in Dutch long-QT familiesR J Jongbloed, A A Wilde, J L Geelen, et al.

Human Mutation|April 29, 1999

A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. OnlineH Peters, D Hess, R Fahsold, et al.

Human Mutation|April 29, 1999

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. OnlineI Lerer, A Laufer-Cahana, J R Rivlin, et al.

Human Mutation|April 29, 1999

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. OnlineA Marcão, O Amaral, E Pinto, et al.

Human Mutation|January 29, 2000

Isolated complex I deficiency in children: clinical, biochemical and genetic aspectsJ L Loeffen, J A Smeitink, J M Trijbels, et al.

Human Mutation|January 29, 2000

Screening practices for mutations in the CFTR gene ABCC7E Girodon-Boulandet, C Cazeneuve, M Goossens

Human Mutation|January 29, 2000

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R)L Kozák, H Francová, L Fajkusová, et al.

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Showing results (2851-2860 of 5,748) with videos related to

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Pageof 575

Human Mutation|January 29, 2000

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. OnlineM G Miano, D Valverde, T Solans, et al.

Human Mutation|January 29, 2000

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. OnlineT Bienvenu, S Bousquet, D Vidaud, et al.

Human Mutation|April 29, 1999

Low yield of polymorphisms from EST blast searching: analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1L Forsberg, U de Faire, R Morgenstern

Human Mutation|April 29, 1999

Novel KCNQ1 and HERG missense mutations in Dutch long-QT familiesR J Jongbloed, A A Wilde, J L Geelen, et al.

Human Mutation|April 29, 1999

A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. OnlineH Peters, D Hess, R Fahsold, et al.

Human Mutation|April 29, 1999

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. OnlineI Lerer, A Laufer-Cahana, J R Rivlin, et al.

Human Mutation|April 29, 1999

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. OnlineA Marcão, O Amaral, E Pinto, et al.

Human Mutation|January 29, 2000

Isolated complex I deficiency in children: clinical, biochemical and genetic aspectsJ L Loeffen, J A Smeitink, J M Trijbels, et al.

Human Mutation|January 29, 2000

Screening practices for mutations in the CFTR gene ABCC7E Girodon-Boulandet, C Cazeneuve, M Goossens

Human Mutation|January 29, 2000

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R)L Kozák, H Francová, L Fajkusová, et al.

Pageof 575