Adenomatous Polyposis Coli
|
|
0.710 |
GeneticVariation
|
BEFREE |
We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members.
|
16292097 |
2005 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
19793053 |
2009 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients.
|
10713886 |
2000 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
|
17411426 |
2007 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.
|
15024739 |
2004 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.
|
15300853 |
2004 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.
|
10083733 |
1999 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.
|
15951963 |
2005 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).
|
12173026 |
2002 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.
|
8381579 |
1993 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
APC gene mutations causing familial adenomatous polyposis in Polish patients.
|
19029688 |
2008 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.
|
19444466 |
2009 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis.
|
17785554 |
2007 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members.
|
16292097 |
2005 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA).
|
16088911 |
2005 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
|
16134147 |
2005 |
Adenomatous Polyposis Coli
|
|
0.710 |
CausalMutation
|
CLINVAR |
Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.
|
1324223 |
1992 |