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Titel:

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
den Hollander, AI; Lopez, I; Yzer, S; Zonneveld, MN; Janssen, IM; Strom, TM; Hehir-Kwa, JY; Veltman, JA; Arends, ML; Meitinger, T; Musarella, MA; van den Born, LI; Fishman, GA; Maumenee, IH; Rohrschneider, K; Cremers, FP; Koenekoop, RK
Abstract:
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 with LCA and juvenile RP were analyzed for homozygous chromosomal regions by using SN...     »
Zeitschriftentitel:
Invest Ophthalmol Vis Sci
Jahr:
2007
Band / Volume:
48
Heft / Issue:
12
Seitenangaben Beitrag:
5690-8
Sprache:
eng
Volltext / DOI:
doi:10.1167/iovs.07-0610
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/18055821
Print-ISSN:
0146-0404
TUM Einrichtung:
Institut für Humangenetik
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