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PURPOSE To screen the mutation in the retinitis pigmentosa GTPase regulator (RPGR) ORF15 in a large Chinese family with X-linked recessive retinitis pigmentosa and describe the phenotype in affected male and female carriers. METHODS Ophthalmic examination was performed on 77 family members to identify affected individuals and to characterize the disease(More)
OBJECTIVE To investigate the association between small ubiquitin-related modifier-1 (SUMO-1) gene rs6709162, rs7599810, rs7580433 polymorphism and non-syndromic oral clefting (NSOC). METHODS Our study consisted of 208 Ningxia NSOC patients, their parents (189 fathers and 176 mothers), 172 nuclear families (patients and their parents), and 284 normal(More)
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