Analysis of the ABCA4 genomic locus in Stargardt disease.

  title={Analysis of the ABCA4 genomic locus in Stargardt disease.},
  author={Jana Zernant and Yajing Angela Xie and Carmen Ayuso and Rosa Riveiro-{\'A}lvarez and Miguel-{\'A}ngel L{\'o}pez-Mart{\'i}nez and Francesca Simonelli and Francesco Testa and Michael B. Gorin and Samuel P Strom and Mette Bertelsen and Thomas Rosenberg and Philip M Boone and Bo Yuan and Radha Ayyagari and P{\'e}ter Liter{\'a}ti Nagy and Stephen H Tsang and Peter Gouras and Frederick T. Collison and James R Lupski and Gerald Allen Fishman and Rando L. Allikmets},
  journal={Human molecular genetics},
  volume={23 25},
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), array-Comparative Genome Hybridization (aCGH) screening, familial segregation and… CONTINUE READING
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Analysis of the ABCA4 gene by next-generation sequencing.

Investigative ophthalmology & visual science • 2011

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