E-viri
PDF
Recenzirano
Odprti dostop
-
Bryant, Laura; Lozynska, Olga; Han, Grace; Morgan, Jessica I. W.; Gai, Xiaowu; Maguire, Albert M.; Aleman, Tomas; Bennett, Jean
Ophthalmic genetics, 01/2018, Letnik: 39, Številka: 1Journal Article
The p.R713Q variant of the semaphorin-4a-encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or heterozygous for the variant. The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.
