Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

BACKGROUND: Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and phosphatidylethanolamine. The purpose of this study i...

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Detalles Bibliográficos
Autores principales: Raj, Rajendran Kadarkarai, Dhoble, Pankaja, Anjanamurthy, Rupa, Chermakani, Prakash, Kumaran, Manojkumar, Devarajan, Bharanidharan, Sundaresan, Periasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950877/
https://www.ncbi.nlm.nih.gov/pubmed/31934596
http://dx.doi.org/10.1186/s40662-019-0168-8

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