Journal article icon

Journal article

Increased population risk of AIP-related acromegaly and gigantism in Ireland.

Abstract:

The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304* (or p.R304*; NM_003977.3:c.910C>T, p.Arg304Ter) identified in Northern Ireland (NI) predisposes to acromegaly/gigantism; its population health impact remains unexplored. We measured R304* carrier frequency in 936 Mid Ulster, 1000 Greater Belfast (both in NI) and 2094 Republic of Ireland (ROI) volunteers and in 116 acromegaly/gigantism patients. Carrier frequencies were 0.0064 in Mid Ulster (95%CI = 0.0027-0.013;...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Publisher copy:
10.1002/humu.23121

Authors


More from this funder
Name:
European Commission
Grant:
303006/2011
More from this funder
Name:
Wellcome Trust
Grant:
098395/Z/12/A
More from this funder
Name:
Belfast City Hospital Charitable fund
Publisher:
Wiley
Journal:
Human Mutation More from this journal
Volume:
38
Issue:
1
Pages:
78-85
Publication date:
2016-09-01
Acceptance date:
2016-09-13
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Pmid:
27650164
Language:
English
Keywords:
Pubs id:
pubs:646018
UUID:
uuid:1f13d64e-181e-46e2-8379-7a2302d18583
Local pid:
pubs:646018
Source identifiers:
646018
Deposit date:
2017-08-04

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP