Human mutation - JoVE Visualize

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Human Mutation|April 29, 1999

WRN mutations in Werner syndromeM J Moser, J Oshima, R J Monnat

Human Mutation|April 29, 1999

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger, A Matasovic, S Laufs, et al.

Human Mutation|April 29, 1999

Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. OnlineC Karadimas, M Panas, P Chronopoulou, et al.

Human Mutation|April 24, 1999

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. OnlineN Katsumata, A Tanae, T Shinagawa, et al.

Human Mutation|April 24, 1999

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. OnlineF Sangiuolo, A Botta, A Mesoraca, et al.

Human Mutation|April 24, 1999

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.

Human Mutation|April 24, 1999

Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. OnlineL Gort, A Chabás, M J Coll

Human Mutation|March 27, 1999

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)K L Dry, F D Manson, A Lennon, et al.

Human Mutation|March 27, 1999

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. OnlineA L Sertié, C Brahe, M R Passos-Bueno

Human Mutation|March 27, 1999

A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones. Mutations in brief no. 219. OnlineR K Dang, R S Anthony, J I Craig, et al.

Pageof 577

Showing results (441-450 of 5,769) with videos related to

Sort By:

Pageof 577

Human Mutation|April 29, 1999

WRN mutations in Werner syndromeM J Moser, J Oshima, R J Monnat

Human Mutation|April 29, 1999

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger, A Matasovic, S Laufs, et al.

Human Mutation|April 29, 1999

Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. OnlineC Karadimas, M Panas, P Chronopoulou, et al.

Human Mutation|April 24, 1999

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. OnlineN Katsumata, A Tanae, T Shinagawa, et al.

Human Mutation|April 24, 1999

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. OnlineF Sangiuolo, A Botta, A Mesoraca, et al.

Human Mutation|April 24, 1999

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.

Human Mutation|April 24, 1999

Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. OnlineL Gort, A Chabás, M J Coll

Human Mutation|March 27, 1999

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)K L Dry, F D Manson, A Lennon, et al.

Human Mutation|March 27, 1999

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. OnlineA L Sertié, C Brahe, M R Passos-Bueno

Human Mutation|March 27, 1999

A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones. Mutations in brief no. 219. OnlineR K Dang, R S Anthony, J I Craig, et al.

Pageof 577