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Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene

Background—Germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5 causes familial adenomatous polyposis. "Attenuated" phenotype has been reported with mutation in the 5' end of the gene (5' to codon 158), but genotype-phenotype relations at the 3' end...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Brensinger, J, Laken, S, Luce, M, Powell, S, Vance, G, Ahnen, D, Petersen, G, Hamilton, S, Giardiello, F
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1727294/
https://ncbi.nlm.nih.gov/pubmed/9824584
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