Journal article icon

Journal article

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Abstract:

X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and SOX3), and analyses have not revealed mutations. We therefore characterized this region by combined analysis of single nucleotide polymorphisms and sequence-tagged sites. This identified a 23- to 25-kb deletion, which did not contain genes. However, DNA fiber-FISH and pulsed-field gel electrophoresis revealed an approximately 340-kb inserti...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1172/jci24156

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Harding, B More by this author
Jefferson, A More by this author
Expand authors...
Journal:
The Journal of clinical investigation
Volume:
115
Issue:
10
Pages:
2822-2831
Publication date:
2005-10-05
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
URN:
uuid:72481623-f1f4-4e47-a2e7-9d5983fa7a78
Source identifiers:
25525
Local pid:
pubs:25525

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