Rudolph, Guenther

KIF21A variant R954W in familial or sporadic cases of CFEOM1. [electronic resource] - European journal of ophthalmology - 667-74 p. digital

Publication Type: Journal Article

1120-6721

10.1177/112067210901900423 doi


Adult
Blepharoptosis--genetics
Child, Preschool
Chromosomes, Human, Pair 16--genetics
DNA Mutational Analysis
Female
Fibrosis--congenital
Genetic Linkage
Haplotypes
Humans
Kinesins--genetics
Male
Mutation
Oculomotor Muscles--pathology
Ophthalmoplegia, Chronic Progressive External--genetics
Pedigree