NDP gene mutations in 14 French families with Norrie disease
NDP gene mutations in 14 French families with Norrie disease
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Contents
Norrie disease is a rare X‐inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease‐causing sequence variants. Here, we repo...
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Full title
NDP gene mutations in 14 French families with Norrie disease
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TN_cdi_proquest_miscellaneous_71388659
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71388659
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.9204
