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A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.
Reig, C; Llecha, N; Antich, J; Gean, E; Tejada, I; Molina, M; Reventós, J; Carballo, M.
Affiliation
  • Reig C; Secció de Genética del Hospital Sant Joan de Déu, Barcelona, Spain.
Hum Mol Genet ; 3(1): 195-6, 1994 Jan.
Article in En | MEDLINE | ID: mdl-8162026
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Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Rhodopsin / Threonine / Retinitis Pigmentosa / Point Mutation / Histidine Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 1994 Document type: Article Affiliation country:
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Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Rhodopsin / Threonine / Retinitis Pigmentosa / Point Mutation / Histidine Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 1994 Document type: Article Affiliation country:
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