Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
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Author / Creator
Huang, Xiaoyan , Tian, Mao , Li, Jiankang , Cui, Ling , Li, Min and Zhang, Jianguo
Publisher
India: Medknow Publications and Media Pvt. Ltd
Journal title
Language
English
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Publication information
Publisher
India: Medknow Publications and Media Pvt. Ltd
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Scope and Contents
Contents
Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genet...
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Full title
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d5ed5a63e68b4ff991f001ba4c4dcbf6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d5ed5a63e68b4ff991f001ba4c4dcbf6
Other Identifiers
ISSN
0301-4738
E-ISSN
1998-3689
DOI
10.4103/ijo.IJO_442_17
