Article
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Investigative ophthalmology & visual science - 1 Dec 2007
den Hollander Anneke I, Lopez Irma, Yzer Suzanne, Zonneveld Marijke N, Janssen Irene M, Strom Tim M, Hehir-Kwa Jayne Y, Veltman Joris A, Arends Maarten L, Meitinger Thomas, Musarella Maria A, van den Born L Ingeborgh, Fishman Gerald A, Maumenee Irene H, Rohrschneider Klaus, Cremers Frans P M, Koenekoop Robert K
Abstract excerpt
PURPOSE: Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) cause severe visual impairment early in life. Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes. METHODS: The genomes of 93 consanguineous and nonconsanguineous patients...
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