Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

We used a combined approach of homozygosity mapping and whole exome sequencing (WES) to search for the genetic cause of autosomal recessive retinitis pigmentosa (arRP) in families of Yemenite Jewish origin. Homozygosity mapping of two arRP Yemenite Jewish families revealed a few homozygous regions....

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I tiakina i:

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Ngā kaituhi matua:	Samer Khateb, Lina Zelinger, Tamar Ben-Yosef, Saul Merin, Ornit Crystal-Shalit, Menachem Gross, Eyal Banin, Dror Sharon
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Public Library of Science (PLoS) 2012-01-01
Rangatū:	PLoS ONE
Urunga tuihono:	http://europepmc.org/articles/PMC3520954?pdf=render
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

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