Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

M L Bisgaard; Rasmus Sejersten Ripa; A L Knudsen; S Bülow

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

M L Bisgaard, Rasmus Sejersten Ripa, A L Knudsen, S Bülow

25 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Gut
Vol/bind	53
Udgave nummer	2
Sider (fra-til)	266-70
Antal sider	5
ISSN	0017-5749
Status	Udgivet - feb. 2004
Udgivet eksternt	Ja

Citationsformater

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title = "Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype",

abstract = "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.",

keywords = "Adenomatous Polyposis Coli, Adult, Age of Onset, Aged, Chi-Square Distribution, Genes, APC, Genotype, Germ-Line Mutation, Humans, Middle Aged, Odds Ratio, Phenotype, Risk",

author = "Bisgaard, {M L} and Ripa, {Rasmus Sejersten} and Knudsen, {A L} and S B{\"u}low",

year = "2004",

month = feb,

language = "English",

volume = "53",

pages = "266--70",

journal = "Gut",

issn = "0017-5749",

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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

SN - 0017-5749

VL - 53

SP - 266

EP - 270

JO - Gut

JF - Gut

IS - 2

ER -

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

Abstract

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