Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9

Benzer Materyaller

• Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.
  Yazar:: Scott, R J, ve diğerleri
  Baskı/Yayın Bilgisi: (1995)
• Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene
  Yazar:: Brensinger, J, ve diğerleri
  Baskı/Yayın Bilgisi: (1998)
• A novel indel in exon 9 of APC upregulates a ‘skip exon 9' isoform and causes very severe familial adenomatous polyposis
  Yazar:: Cheah, Peh Yean, ve diğerleri
  Baskı/Yayın Bilgisi: (2014)
• The relationships between phenotypic expression in patients with familial adenomatous polyposis (FAP) and the site of mutations in the adenomatous polyposis coli (APC) gene.
  Yazar:: Cetta, F, ve diğerleri
  Baskı/Yayın Bilgisi: (1999)
• APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.
  Yazar:: Giardiello, F M, ve diğerleri
  Baskı/Yayın Bilgisi: (1997)