Journal article icon

Journal article

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Abstract:

Familial isolated pituitary adenoma (FIPA) is an autosomal dominant condition with variable genetic background and incomplete penetrance. Germline mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene have been reported in 15-40% of FIPA patients. Limited data are available on the functional consequences of the mutations or regarding the regulation of the AIP gene. We describe a large cohort of FIPA families and characterize missense and silent mutations using minigene con...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1002/humu.21292

Authors


Chahal, HS More by this author
Bolger, GB More by this author
Srirangalingam, U More by this author
Expand authors...
Journal:
Human mutation
Volume:
31
Issue:
8
Pages:
950-960
Publication date:
2010-08-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:9ffd88fb-cd4b-4623-9553-232a85c49e7b
Source identifiers:
112455
Local pid:
pubs:112455

Terms of use


Metrics



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

TO TOP