KIF21A variant R954W in familial or sporadic cases of CFEOM1. [electronic resource]
Producer: 20091124Description: 667-74 p. digitalISSN:- 1120-6721
- 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
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Publication Type: Journal Article
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