Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

Wilkie, S E

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. [electronic resource] - American journal of human genetics Sep 2001 - 471-80 p. digital

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

0002-9297

10.1086/323265 doi


Amino Acid Sequence
Amino Acid Substitution
Calcium-Binding Proteins--chemistry
Corneal Dystrophies, Hereditary--genetics
DNA--analysis
Female
Glutamic Acid--genetics
Glycine--genetics
Guanylate Cyclase-Activating Proteins
Humans
Male
Models, Molecular
Molecular Sequence Data
Mutation
Pedigree
Protein Conformation
Pyrimidines
Sequence Homology, Amino Acid