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Journal article

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

Abstract:

Familial benign hypocalciuric hypercalcaemia (FBHH) is a genetically heterogeneous disorder that consists of three designated types, FBHH1, FBHH2 and FBHH3, whose chromosomal locations are 3q21.1, 19p and 19q13, respectively. FBHH1 is caused by mutations of a calcium-sensing receptor (CaSR), but the abnormalities underlying FBHH2 and FBHH3 are unknown. FBHH3, also referred to as the Oklahoma variant (FBHH(Ok)), has been mapped to a 12cM interval, flanked by D19S908 and D19S866. To refine the ...

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Publication status:
Published

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Publisher copy:
10.1038/ejhg.2009.161

Authors


Hannan, FM More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Turner, JJ More by this author
Stacey, JM More by this author
Cianferotti, L More by this author
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Journal:
European journal of human genetics : EJHG
Volume:
18
Issue:
4
Pages:
442-447
Publication date:
2010-04-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:2105b77c-c4df-41cc-99b7-766092c3a1a3
Source identifiers:
4106
Local pid:
pubs:4106

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