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A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.

Authors
  • Iino, Yutaka1
  • Fujimaki, Takuro
  • Fujiki, Keiko
  • Murakami, Akira
  • 1 Department of Ophthalmology, Juntendo University School of Medicine, Hongo, Bunkyo-ku, Tokyo, Japan. [email protected] , (Japan)
Type
Published Article
Journal
Japanese journal of ophthalmology
Publication Date
Jan 01, 2008
Volume
52
Issue
4
Pages
289–297
Identifiers
DOI: 10.1007/s10384-008-0564-4
PMID: 18773267
Source
Medline
License
Unknown

Abstract

A novel (967-970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia.

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