A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
Payne, A M
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. [electronic resource] - Human molecular genetics Feb 1998 - 273-7 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/7.2.273 doi
Amino Acid Sequence
Calcium-Binding Proteins--chemistry
Chromosomes, Human, Pair 6--genetics
DNA Mutational Analysis
Eye Proteins
Female
Genes
Genes, Dominant
Guanylate Cyclase-Activating Proteins
Hippocalcin
Humans
Lipoproteins
Lod Score
Male
Models, Molecular
Molecular Sequence Data
Nerve Tissue Proteins
Pedigree
Point Mutation
Polymerase Chain Reaction
Protein Conformation
Recoverin
Retinal Cone Photoreceptor Cells--pathology
Retinal Degeneration--enzymology
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. [electronic resource] - Human molecular genetics Feb 1998 - 273-7 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/7.2.273 doi
Amino Acid Sequence
Calcium-Binding Proteins--chemistry
Chromosomes, Human, Pair 6--genetics
DNA Mutational Analysis
Eye Proteins
Female
Genes
Genes, Dominant
Guanylate Cyclase-Activating Proteins
Hippocalcin
Humans
Lipoproteins
Lod Score
Male
Models, Molecular
Molecular Sequence Data
Nerve Tissue Proteins
Pedigree
Point Mutation
Polymerase Chain Reaction
Protein Conformation
Recoverin
Retinal Cone Photoreceptor Cells--pathology
Retinal Degeneration--enzymology