Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation-Reference-Cited by-同舟云学术

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Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation

Published:2003-01-27 Issue:2 Volume:21 Page:169-170
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Angèle Sandra,Laugé Anthony,Fernet Marie,Moullan Norman,Beauvais Pierre,Couturier Jérôme,Stoppa-Lyonnet Dominique,Hall Janet

Funder

Ministère de l'Education Nationale, de la Recherche et de la Technologie, France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The natural history of ataxia-telangiectasia (A-T): A systematic review;PLOS ONE;2022-03-15

2. ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer;Cancers;2021-11-01

3. Complexities of Next-Generation Sequencing in Solid Tumors: Case Studies;Journal of the National Comprehensive Cancer Network;2020-09

4. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia;Neurology;2014-08-13

5. A‐ T W innipeg : Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening radiotoxicity;Molecular Genetics & Genomic Medicine;2014-03-13

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