Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa

PURPOSE: To evaluate microarray-based genotyping technology for the detection of mutations responsible for retinitis pigmentosa (RP) and to perform phenotypic characterization of patients with pathogenic mutations. METHODS: DNA from 336 patients with RP and 360 controls was analyzed using the Golden...

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Detalles Bibliográficos
Autores principales: Kim, Cinoo, Kim, Kwang Joong, Bok, Jeong, Lee, Eun-Ju, Kim, Dong-Joon, Oh, Ji Hee, Park, Sung Pyo, Shin, Joo Young, Lee, Jong-Young, Yu, Hyeong Gon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462597/
https://www.ncbi.nlm.nih.gov/pubmed/23049240

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462597/
https://www.ncbi.nlm.nih.gov/pubmed/23049240

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