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...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2010
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3003713/
https://ncbi.nlm.nih.gov/pubmed/21179430
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