Molecular diagnosis of putative Stargardt disease probands by exome sequencing

• Main Authors: Strom Samuel P (Author), Gao Yong-Qing (Author), Martinez Ariadna (Author), Ortube Carolina (Author), Chen Zugen (Author), Nelson Stanley F (Author), Nusinowitz Steven (Author), Farber Deborah B (Author), Gorin Michael B (Author)
• Format: Book
• Published: BMC, 2012-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...