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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Authors
  • 1
  • 1 Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.
Type
Published Article
Journal
Journal of Medical Genetics
1468-6244
Publisher
BMJ
Publication Date
Volume
47
Issue
7
Pages
499–506
Identifiers
DOI: 10.1136/jmg.2009.075143
PMID: 20507924
Source
Medline
License
Unknown

Abstract

At least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.

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