A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
J Med Genet
; 40(9): 709-13, 2003 Sep.
Article
in En
| MEDLINE
| ID: mdl-12960219
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinal Degeneration
/
Proteins
/
Founder Effect
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Europa
Language:
En
Journal:
J Med Genet
Year:
2003
Document type:
Article