[Inherited retinal diseases in patients with ABCA4 gene mutations].

Sheremet, N L; Grushke, I G; Zhorzholadze, N V; Tanas, A S; Strelnikov, V V

[Inherited retinal diseases in patients with ABCA4 gene mutations]. / Nasledstvennye zabolevaniia setchatki pri mutatsiiakh gena ABCA4.

Sheremet, N L; Grushke, I G; Zhorzholadze, N V; Tanas, A S; Strelnikov, V V.

Afiliação

Sheremet NL; Research Institute of Eye Diseases, 11, A, B, Rossolimo St., Moscow, Russian Federation, 119021.
Grushke IG; Research Institute of Eye Diseases, 11, A, B, Rossolimo St., Moscow, Russian Federation, 119021.
Zhorzholadze NV; Research Institute of Eye Diseases, 11, A, B, Rossolimo St., Moscow, Russian Federation, 119021.
Tanas AS; Medicogenetic Research Center, 1 Moskvorechye St., Moscow, Russian Federation, 115478.
Strelnikov VV; Medicogenetic Research Center, 1 Moskvorechye St., Moscow, Russian Federation, 115478.

Vestn Oftalmol ; 134(4): 68-73, 2018.

Article em Ru | MEDLINE | ID: mdl-30166513

Assuntos

Transportadores de Cassetes de Ligação de ATP; Degeneração Macular; Retinose Pigmentar; Transportadores de Cassetes de Ligação de ATP/genética; Humanos; Degeneração Macular/genética; Mutação; Retina; Retinose Pigmentar/genética

Palavras-chave

ABCA4; Stargardt disease; cone-rod dystrophy; inherited retinal diseases; mutations; phenotype-genotype correlations; retinitis pigmentosa

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Transportadores de Cassetes de Ligação de ATP / Degeneração Macular Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: Ru Revista: Vestn Oftalmol Ano de publicação: 2018 Tipo de documento: Article

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