A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

Gerber, Sylvie

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. [electronic resource] - Ophthalmic genetics Dec 2002 - 225-35 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1381-6810

10.1076/opge.23.4.225.13879 doi


Amino Acid Sequence
Animals
Arabs--genetics
Base Sequence
Blindness--congenital
Chromosome Segregation
Chromosomes, Human, Pair 1--genetics
Consanguinity
DNA Mutational Analysis
Eye Proteins
Female
Humans
Israel--epidemiology
Male
Membrane Proteins--genetics
Microsatellite Repeats
Molecular Sequence Data
Mutation--genetics
Nerve Tissue Proteins
Optic Atrophy, Hereditary, Leber--ethnology
Pedigree
RNA, Messenger--metabolism
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid