Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
نویسندگان
چکیده
منابع مشابه
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
Nephronophthisis-related ciliopathies (NPHP-RCs) are developmental and degenerative kidney diseases that are frequently associated with extrarenal pathologies such as retinal degeneration, obesity, and intellectual disability. We recently identified mutations in a gene encoding the centrosomal protein SDCCAG8 as causing NPHP type 10 in humans. To study the role of Sdccag8 in disease pathogenesi...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2010
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.662