User: Guest  Login
Document type:
journal article 
Author(s):
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 
Title:
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 
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...    »
 
Journal title abbreviation:
Invest Ophthalmol Vis Sci 
Year:
2007 
Journal volume:
48 
Journal issue:
12 
Pages contribution:
5690-8 
Language:
eng 
Print-ISSN:
0146-0404 
TUM Institution:
r Humangenetik