Deep intronic GPR143 mutation in a Japanese family with ocular albinism

Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of coding regions were...

Descripción completa

Detalles Bibliográficos
Autores principales: Naruto, Takuya, Okamoto, Nobuhiko, Masuda, Kiyoshi, Endo, Takao, Hatsukawa, Yoshikazu, Kohmoto, Tomohiro, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650666/
https://www.ncbi.nlm.nih.gov/pubmed/26061757
http://dx.doi.org/10.1038/srep11334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650666/
https://www.ncbi.nlm.nih.gov/pubmed/26061757
http://dx.doi.org/10.1038/srep11334

Ejemplares similares