TY  - GEN
AU  - Rudolph,Guenther
AU  - Nentwich,Michael
AU  - Hellebrand,Heide
AU  - Pollack,Katharina
AU  - Gordes,Roswitha
AU  - Bau,Viktoria
AU  - Kampik,Anselm
AU  - Meindl,Alfons
TI  - KIF21A variant R954W in familial or sporadic cases of CFEOM1
SN  - 1120-6721
PY  - 2009///1124
KW  - Adult
KW  - Blepharoptosis
KW  - genetics
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 16
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibrosis
KW  - congenital
KW  - Genetic Linkage
KW  - Haplotypes
KW  - Humans
KW  - Kinesins
KW  - Male
KW  - Mutation
KW  - Oculomotor Muscles
KW  - pathology
KW  - Ophthalmoplegia, Chronic Progressive External
KW  - Pedigree
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1177/112067210901900423
ER  -