A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. [electronic resource]
Producer: 20030418Description: 225-35 p. digitalISSN:- 1381-6810
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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