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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
Khateb S,
Zelinger L,
Ben-Yosef T,
Merin S,
Crystal-Shalit O,
et al.
(2012)
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.
PLOS ONE 7(12): e51566.
https://doi.org/10.1371/journal.pone.0051566