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The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

Authors
  • Skorczyk-Werner, Anna
  • Kocięcki, Jarosław
  • Wawrocka, Anna
  • Wicher, Katarzyna
  • Krawczyńiski, Maciej Robert
Type
Published Article
Journal
Klinika oczna
Publication Date
Jan 01, 2015
Volume
117
Issue
1
Pages
27–30
Identifiers
PMID: 26349155
Source
Medline
License
Unknown

Abstract

This is the first molecular evidence for GRK1 gene mutation in a Polish patient with Oguchi disease type 2. The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant.

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