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Am J Ophthalmol. 2007 Sep;144(3):475-7.

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.

Author information

  • 1Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.

Erratum in

  • Am J Ophthalmol. 2007 Nov;144(5):790.

Abstract

PURPOSE:

To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease.

DESIGN:

Observational case report.

METHODS:

Two unrelated Japanese patients with Oguchi disease were examined. After informed consent was obtained, the coding regions of SAG and GRK1 were analyzed by direct sequencing.

RESULTS:

Although no mutation was found in SAG, two novel homozygous mutations in GRK1, c.1079 del T and c.1408-1412 CCCCC to CCC, were identified. Both mutations are expected to generate null alleles of GRK1.

CONCLUSIONS:

The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population.

PMID:
17765441
[PubMed - indexed for MEDLINE]
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