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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
  • McGee, Terri L1
  • Seyedahmadi, Babak Jian
  • Sweeney, Meredith O
  • Dryja, Thaddeus P
  • Berson, Eliot L
  • 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
Publisher
BMJ
Publication Date
Jul 01, 2010
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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