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

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

Abstract 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...

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Bibliographic Details
Main Authors: Rajendran Kadarkarai Raj, Pankaja Dhoble, Rupa Anjanamurthy, Prakash Chermakani, Manojkumar Kumaran, Bharanidharan Devarajan, Periasamy Sundaresan
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Eye and Vision
Subjects:
Stargardt
ABCA4
Macular degeneration
Yellow white flecks
Mutation detection
South Indian population
Online Access:https://doi.org/10.1186/s40662-019-0168-8

Internet

https://doi.org/10.1186/s40662-019-0168-8

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