Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
Human molecular genetics - 20 Dec 2014
Zernant Jana, Xie Yajing Angela, Ayuso Carmen, Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Simonelli Francesca, Testa Francesco, Gorin Michael B, Strom Samuel P, Bertelsen Mette, Rosenberg Thomas, Boone Philip M, Yuan Bo, Ayyagari Radha, Nagy Peter L, Tsang Stephen H, Gouras Peter, Collison Frederick T, Lupski James R, Fishman Gerald A, Allikmets Rando
Abstract excerpt
Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65-70% of patients and only one mutation in 15-20% of patients. This study was designed to find the missing disease-causing ABCA4 variation by a combination of next-generation sequencing (NGS),...
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