Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype
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Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype. / Bisgaard, M L; Ripa, Rasmus Sejersten; Knudsen, A L; Bülow, S.
I: Gut, Bind 53, Nr. 2, 02.2004, s. 266-70.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype
AU - Bisgaard, M L
AU - Ripa, Rasmus Sejersten
AU - Knudsen, A L
AU - Bülow, S
PY - 2004/2
Y1 - 2004/2
N2 - Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains.
AB - Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains.
KW - Adenomatous Polyposis Coli
KW - Adult
KW - Age of Onset
KW - Aged
KW - Chi-Square Distribution
KW - Genes, APC
KW - Genotype
KW - Germ-Line Mutation
KW - Humans
KW - Middle Aged
KW - Odds Ratio
KW - Phenotype
KW - Risk
M3 - Journal article
C2 - 14724162
VL - 53
SP - 266
EP - 270
JO - Gut
JF - Gut
SN - 0017-5749
IS - 2
ER -
ID: 47744744