Stone, E M

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. [electronic resource] - Nature genetics Jun 1999 - 199-202 p. digital

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

1061-4036

10.1038/9722 doi


Aging
Amino Acid Substitution
Animals
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 2
Corneal Dystrophies, Hereditary--genetics
Extracellular Matrix Proteins--genetics
Female
Fluorescein Angiography
Gene Expression Regulation
Humans
Male
Mice
Pigment Epithelium of Eye--pathology
Point Mutation
Retinal Drusen--genetics
Transcription, Genetic