Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Here we report novel mutations in ABCA4 with the underlying phenotype in a large French cohort with autosomal recessive Stargardt disease. The DNA samples of 397 index subjects were analyzed in exons and flanking intronic regions of ABCA4 (NM_000350.2) by microarray analysis and direct Sanger sequen...

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Bibliographic Details
Main Authors: Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Format: Article
Language:English
Published: MDPI AG 2018-07-01
Series:International Journal of Molecular Sciences
Subjects:
ABCA4
Stargardt disease
phenotype-genotype correlation
Online Access:http://www.mdpi.com/1422-0067/19/8/2196

Internet

http://www.mdpi.com/1422-0067/19/8/2196

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