TY  - GEN
AU  - Payne,A M
AU  - Downes,S M
AU  - Bessant,D A
AU  - Taylor,R
AU  - Holder,G E
AU  - Warren,M J
AU  - Bird,A C
AU  - Bhattacharya,S S
TI  - A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
SN  - 0964-6906
PY  - 1998///0317
KW  - Amino Acid Sequence
KW  - Calcium-Binding Proteins
KW  - chemistry
KW  - Chromosomes, Human, Pair 6
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Eye Proteins
KW  - Female
KW  - Genes
KW  - Genes, Dominant
KW  - Guanylate Cyclase-Activating Proteins
KW  - Hippocalcin
KW  - Humans
KW  - Lipoproteins
KW  - Lod Score
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Nerve Tissue Proteins
KW  - Pedigree
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Protein Conformation
KW  - Recoverin
KW  - Retinal Cone Photoreceptor Cells
KW  - pathology
KW  - Retinal Degeneration
KW  - enzymology
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/7.2.273
ER  -