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Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Abstract:

CONTEXT: Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively. Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2σ 2), encoded by AP2S1, cause FHH3, and we therefore sought for gain-of-function AP2S1 mutations that may cause an addi...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1210/jc.2013-3909

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Hannan, FM More by this author
Howles, SA More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
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Medical Research Council More from this funder
National Institute for Health Research Oxford Biomedical Research Centre More from this funder
Publisher:
Endocrine Society Publisher's website
Journal:
The Journal of clinical endocrinology and metabolism Journal website
Volume:
99
Issue:
7
Pages:
E1300-E1305
Publication date:
2014
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:a0e73dc3-5f4c-4333-91a2-f10cfb09dbf6
Source identifiers:
462050
Local pid:
pubs:462050

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