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A large deletion in RPGR causes XLPRA in Weimaraner dogs

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NIAID Data Ecosystem2026-03-10 收录
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https://www.ncbi.nlm.nih.gov/sra/ERP016133
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资源简介:
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 mutation was absent in two additional unrelated healthy Weimaraners.
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2018-02-21
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