Molecular diagnosis of putative Stargardt disease probands by exome sequencing

Molecular diagnosis of putative Stargardt disease probands by exome sequencing

<p>Abstract</p> <p>Background</p> <p>The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene <it>ABCA4</it>. However, high phenotypic and allelic heterogeneity and...

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Bibliographic Details
Main Authors: Strom Samuel P, Gao Yong-Qing, Martinez Ariadna, Ortube Carolina, Chen Zugen, Nelson Stanley F, Nusinowitz Steven, Farber Deborah B, Gorin Michael B
Format: Article
Language:English
Published: BMC 2012-08-01
Series:BMC Medical Genetics
Subjects:
Stargardt Disease
Macular Degeneration
Exome
Mutation Screening
Molecular Diagnostics
<it>ABCA4</it>
<it>PRPH2</it>
Online Access:http://www.biomedcentral.com/1471-2350/13/67

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http://www.biomedcentral.com/1471-2350/13/67

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