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

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

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

Akio Oishi,Masayuki Akimoto,Naoaki Kawagoe,Michiko Mandai,Masayo Takahashi,Nagahisa Yoshimura,

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.

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. Publishing Authors By Initials

A Oishi,M Akimoto,N Kawagoe,M Mandai,M Takahashi,N Yoshimura,

For similar investigative techniques: genetic techniques: sequence analysis: sequence analysis, dna research abstracts see: investigative techniques: genetic techniques: sequence analysis: sequence analysis, dna research

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

PUBLICATION TYPE: Journal Article

Journal: American journal of ophthalmology

VOLUME: 144

Page Numbers: 475-7

Journal Abbreviation: Am. J. Ophthalmol.

ISSN: 0002-9394

DAY: 19

MONTH: Sep

YEAR: 2007

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

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LANGUAGE: eng

NlmUniqueID: 370500

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. Keywords Mesh Terms:

KEYWORDS: Sequence Analysis, DNA

MESH TERMS: genetics

Chemical & Substance for Abstract: Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. Information

Substance Name: G-Protein-Coupled Receptor Kinase 1

Registry Number: EC 2.7.11.14

Grant and Affiliation Information for Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.

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

Country: United States

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MEDLINETA: Am J Ophthalmol

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

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