Human mutation - JoVE Visualize

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Human Mutation|October 26, 1999

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence changeK T Hiriyanna, E L Bingham, B M Yashar, et al.

Human Mutation|January 8, 2000

Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. OnlineC A Moskaluk, H Hruban, A Lietman, et al.

Human Mutation|January 8, 2000

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. OnlineM Mottes, M Gomez Lira, F Zolezzi, et al.

Human Mutation|January 8, 2000

Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. OnlineK Klaus, F Herfarth, O A Ogunbiyi, et al.

Human Mutation|November 26, 1999

Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndromeT Kohsaka, M Tagawa, Y Takekoshi, et al.

Human Mutation|November 26, 1999

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiencyM Tredano, R M van Elburg, A G Kaspers, et al.

Human Mutation|November 26, 1999

Missense mutations in the cystic fibrosis gene in adult patients with asthmaC Lázaro, R de Cid, J Sunyer, et al.

Human Mutation|November 26, 1999

Analysis of exon 1 mutations in the androgen receptor geneB Gottlieb, D M Vasiliou, R Lumbroso, et al.

Human Mutation|April 13, 1999

A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. OnlineT Maruyama, Y Miyake, T Yamamura, et al.

Human Mutation|April 13, 1999

Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. OnlineT Matsumura, H Osaka, N Sugiyama, et al.

Pageof 577

Showing results (431-440 of 5,769) with videos related to

Sort By:

Pageof 577

Human Mutation|October 26, 1999

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence changeK T Hiriyanna, E L Bingham, B M Yashar, et al.

Human Mutation|January 8, 2000

Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. OnlineC A Moskaluk, H Hruban, A Lietman, et al.

Human Mutation|January 8, 2000

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. OnlineM Mottes, M Gomez Lira, F Zolezzi, et al.

Human Mutation|January 8, 2000

Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. OnlineK Klaus, F Herfarth, O A Ogunbiyi, et al.

Human Mutation|November 26, 1999

Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndromeT Kohsaka, M Tagawa, Y Takekoshi, et al.

Human Mutation|November 26, 1999

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiencyM Tredano, R M van Elburg, A G Kaspers, et al.

Human Mutation|November 26, 1999

Missense mutations in the cystic fibrosis gene in adult patients with asthmaC Lázaro, R de Cid, J Sunyer, et al.

Human Mutation|November 26, 1999

Analysis of exon 1 mutations in the androgen receptor geneB Gottlieb, D M Vasiliou, R Lumbroso, et al.

Human Mutation|April 13, 1999

A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. OnlineT Maruyama, Y Miyake, T Yamamura, et al.

Human Mutation|April 13, 1999

Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. OnlineT Matsumura, H Osaka, N Sugiyama, et al.

Pageof 577