Article
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
BMC medical genetics - 3 Aug 2012
Strom Samuel P, Gao Yong-Qing, Martinez Ariadna, Ortube Carolina, Chen Zugen, Nelson Stanley F, Nusinowitz Steven, Farber Deborah B, Gorin Michael B
Abstract excerpt
BACKGROUND: The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases. METHODS: We performed whole exome sequencing (WES)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.