Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

PURPOSE: To describe two novel mutations in the eyes shut homolog (EYS) gene in two families with autosomal recessive retinitis pigmentosa (arRP) from Pakistan and Indonesia. METHODS: Genome-wide linkage and homozygosity mapping were performed using single nucleotide polymorphism microarray analysis...

Descripción completa

Detalles Bibliográficos
Autores principales: Khan, Muhammad Imran, Collin, Rob W.J., Arimadyo, Kentar, Micheal, Shazia, Azam, Maleeha, Qureshi, Nadeem, Faradz, Sultana M.H., den Hollander, Anneke I., Qamar, Raheel, Cremers, Frans P.M.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3003713/
https://www.ncbi.nlm.nih.gov/pubmed/21179430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3003713/
https://www.ncbi.nlm.nih.gov/pubmed/21179430

Ejemplares similares