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Article

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.

Molecular vision - 1 Jan 2011

Kim Kwang Joong, Kim Cinoo, Bok Jeong, Kim Kyung-Seon, Lee Eun-Ju, Park Sung Pyo, Chung Hum, Han Bok-Ghee, Kim Hyung-Lae, Kimm Kuchan, Yu Hyeong Gon, Lee Jong-Young

Abstract excerpt

PURPOSE: To determine the spectrum and frequency of rhodopsin gene (RHO) mutations in Korean patients with retinitis pigmentosa (RP) and to characterize genotype-phenotype correlations in patients with mutations. METHODS: The RHO mutations were screened by direct sequencing, and mutation prevalence was measured in patients and controls. The impact of missense mutations to RP was predicted by segregation analysis,...

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Identifiers

PMID: 21677794
PMCID: PMC3113629

Genes

RHO

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