Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation assay followed by sequence analysis of genomic DNA. Fewer than half of the...

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Autors principals: Teraoka, S N, Telatar, M, Becker-Catania, S, Liang, T, Onengüt, S, Tolun, A, Chessa, L, Sanal, O, Bernatowska, E, Gatti, R A, Concannon, P
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377904/
https://ncbi.nlm.nih.gov/pubmed/10330348
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