ERP016133

Title	A large deletion in RPGR causes XLPRA in Weimaraner dogs
Study Type	Other
Abstract	Whole exome sequencing performed on an Ilumina HiSeq 2000 platform identified in two PRA-affected Weimaraner dogs a large deletion comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene known to be involved in human retinitis pigmentosa and canine PRA. The .. [more]mutation was absent in two additional unrelated healthy Weimaraners. [less]
Description	Whole exome sequencing performed on an Ilumina HiSeq 2000 platform identified in two PRA-affected Weimaraner dogs a large deletion comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene known to be involved in human retinitis pigmentosa and canine PRA. The .. [more]mutation was absent in two additional unrelated healthy Weimaraners. [less]
Center Name	RUHR UNIVERSITY BOCHUM

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