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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Hlavní autoři: Abkevich, V, Zharkikh, A, Deffenbaugh, A, Frank, D, Chen, Y, Shattuck, D, Skolnick, M, Gutin, A, Tavtigian, S
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2004
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Original Article
On-line přístup: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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