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Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

Abstract:

The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequencing of one affected and one unaffected family member, followed by targeted analysis of known candidate genes to identify the causative mutation. This identified a missense mutation (c.643G>A; p....

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1002/ajmg.a.37755

Authors


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Department:
Oxford, MSD, RDM, OCDEM
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Department:
Oxford, MSD, RDM, OCDEM
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More from this funder
Funding agency for:
Thakker, RV
Medical Research Council More from this funder
Wellcome Trust More from this funder
National Institute for Health Research Oxford Biomedical Research Centre More from this funder
Publisher:
Wiley Publisher's website
Journal:
American Journal of Medical Genetics Part A Journal website
Volume:
170
Issue:
11
Pages:
2988–2992
Publication date:
2016-08-19
Acceptance date:
2016-04-21
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
Pubs id:
pubs:640273
URN:
uri:429c67cd-a71f-468c-a150-dcd261529566
UUID:
uuid:429c67cd-a71f-468c-a150-dcd261529566
Local pid:
pubs:640273

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