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Your search keyword '"Kelsell, R E"' showing total 2 results
Start Over Author "Kelsell, R E" Journal american journal of human genetics
2 results on '"Kelsell, R E"'

1. A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

Author

Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, and Kaplan J

Subjects
Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Chromosome Mapping, Electroretinography, Exons, Female, Genes, Dominant, Genetic Carrier Screening, Guanylate Cyclase chemistry, Humans, Lod Score, Male, Pedigree, Polymorphism, Genetic, Retinitis Pigmentosa diagnosis, Retinitis Pigmentosa physiopathology, Visual Acuity, Guanylate Cyclase genetics, Point Mutation, Retinitis Pigmentosa genetics
Published
1998
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2. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

Author

Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, and Hunt DM

Subjects
Color Perception physiology, Electrophysiology, England, Female, Genes, Dominant genetics, Genetic Linkage, Haplotypes genetics, Humans, Lod Score, Male, Microsatellite Repeats genetics, Pedigree, Proteoglycans genetics, Retina pathology, Chromosomes, Human, Pair 6 genetics, Eye Diseases genetics, Photoreceptor Cells pathology
Published
1998
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