Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

Introduction: Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutatio...

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Detalhes bibliográficos
Main Authors: Abkevich, V, Zharkikh, A, Deffenbaugh, A, Frank, D, Chen, Y, Shattuck, D, Skolnick, M, Gutin, A, Tavtigian, S
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2004
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735826/
https://ncbi.nlm.nih.gov/pubmed/15235020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.015867
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