TY  - GEN
AU  - Yzer,Suzanne
AU  - Leroy,Bart P
AU  - De Baere,Elfride
AU  - de Ravel,Thomy J
AU  - Zonneveld,Marijke N
AU  - Voesenek,Krysta
AU  - Kellner,Ulrich
AU  - Ciriano,Jose P Martinez
AU  - de Faber,Jan-Tjeerd H N
AU  - Rohrschneider,Klaus
AU  - Roepman,Ronald
AU  - den Hollander,Anneke I
AU  - Cruysberg,Johannes R
AU  - Meire,Françoise
AU  - Casteels,Ingele
AU  - van Moll-Ramirez,Norka G
AU  - Allikmets,Rando
AU  - van den Born,L Ingeborgh
AU  - Cremers,Frans P M
TI  - Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
SN  - 0146-0404
PY  - 2006///0403
KW  - Adaptor Proteins, Signal Transducing
KW  - Alcohol Oxidoreductases
KW  - genetics
KW  - Blindness
KW  - congenital
KW  - Carrier Proteins
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Eye Proteins
KW  - Female
KW  - Genetic Testing
KW  - methods
KW  - Genotype
KW  - Guanylate Cyclase
KW  - Humans
KW  - Infant
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Oligonucleotide Array Sequence Analysis
KW  - Phenotype
KW  - Receptors, Cell Surface
KW  - Retinitis Pigmentosa
KW  - cis-trans-Isomerases
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1167/iovs.05-0848
ER  -