TY  - GEN
AU  - Stone,E M
AU  - Lotery,A J
AU  - Munier,F L
AU  - Héon,E
AU  - Piguet,B
AU  - Guymer,R H
AU  - Vandenburgh,K
AU  - Cousin,P
AU  - Nishimura,D
AU  - Swiderski,R E
AU  - Silvestri,G
AU  - Mackey,D A
AU  - Hageman,G S
AU  - Bird,A C
AU  - Sheffield,V C
AU  - Schorderet,D F
TI  - A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
SN  - 1061-4036
PY  - 1999///0629
KW  - Aging
KW  - Amino Acid Substitution
KW  - Animals
KW  - Chromosome Mapping
KW  - Chromosomes, Artificial, Yeast
KW  - Chromosomes, Human, Pair 2
KW  - Corneal Dystrophies, Hereditary
KW  - genetics
KW  - Extracellular Matrix Proteins
KW  - Female
KW  - Fluorescein Angiography
KW  - Gene Expression Regulation
KW  - Humans
KW  - Male
KW  - Mice
KW  - Pigment Epithelium of Eye
KW  - pathology
KW  - Point Mutation
KW  - Retinal Drusen
KW  - Transcription, Genetic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/9722
ER  -