A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis a...
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
About this item
Full title
Author / Creator
Weren, Robbert D A , Ligtenberg, Marjolijn J L , Kets, C Marleen , de Voer, Richarda M , Verwiel, Eugène T P , Spruijt, Liesbeth , van Zelst-Stams, Wendy A G , Jongmans, Marjolijn C , Gilissen, Christian , Hehir-Kwa, Jayne Y , Hoischen, Alexander , Shendure, Jay , Boyle, Evan A , Kamping, Eveline J , Nagtegaal, Iris D , Tops, Bastiaan B J , Nagengast, Fokko M , Geurts van Kessel, Ad , van Krieken, J Han J M , Kuiper, Roland P and Hoogerbrugge, Nicoline
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Roland Kuiper and colleagues identify a homozygous germline nonsense mutation in the base-excision repair gene
NTHL1
in three families with recessive inheritance of adenomatous polyposis.
The genetic cause underlying the development of multiple colonic adenomas, the premalignant precursors of colorectal cancer (CRC), frequently remains unr...
Alternative Titles
Full title
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
Authors, Artists and Contributors
Author / Creator
Ligtenberg, Marjolijn J L
Kets, C Marleen
de Voer, Richarda M
Verwiel, Eugène T P
Spruijt, Liesbeth
van Zelst-Stams, Wendy A G
Jongmans, Marjolijn C
Gilissen, Christian
Hehir-Kwa, Jayne Y
Hoischen, Alexander
Shendure, Jay
Boyle, Evan A
Kamping, Eveline J
Nagtegaal, Iris D
Tops, Bastiaan B J
Nagengast, Fokko M
Geurts van Kessel, Ad
van Krieken, J Han J M
Kuiper, Roland P
Hoogerbrugge, Nicoline
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1684431117
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1684431117
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3287
