Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

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...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2007-12, Vol.48 (12), p.5690-5698
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Blindness - congenital Blindness - genetics Child Child, Preschool Consanguinity DNA Mutational Analysis Eye and associated structures. Visual pathways and centers. Vision Female Fundamental and applied biological sciences. Psychology Gene Expression Profiling Genotype Homozygote Humans Infant Infant, Newborn Male Medical sciences Mutation Oligonucleotide Array Sequence Analysis Ophthalmology Pedigree Polymorphism, Single Nucleotide Retinitis Pigmentosa - congenital Retinitis Pigmentosa - genetics Retinopathies Vertebrates: nervous system and sense organs
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