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Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis.

The phenotypic expression in familial adenomatous polyposis (FAP) is variable. This study compares the phenotype of 27 patients with an identical 5 base pair (bp) deletion at codon 1309 with a group of 61 matched patients with FAP where knowledge of specific mutations is not available and with seven...

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Detalhes bibliográficos
Main Authors: Nugent, K P, Phillips, R K, Hodgson, S V, Cottrell, S, Smith-Ravin, J, Pack, K, Bodmer, W F
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1375624/
https://ncbi.nlm.nih.gov/pubmed/7828985
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