Familial discordance in Stargardt disease

PURPOSE: To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. METHODS: Five membe...

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Detalles Bibliográficos
Autores principales: Burke, Tomas R., Tsang, Stephen H., Zernant, Jana, Smith, R. Theodore, Allikmets, Rando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272278/
https://www.ncbi.nlm.nih.gov/pubmed/22312191

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