Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. [electronic resource]
Producer: 20020207Description: 2851-9 p. digitalISSN:- 0964-6906
- Adolescent
- Adult
- Age of Onset
- Blotting, Western
- Calpain -- metabolism
- Child
- Child, Preschool
- Chromosomes, Human, Pair 19 -- genetics
- Cytoskeletal Proteins -- deficiency
- DNA Primers -- chemistry
- Dystroglycans
- Female
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Immunoenzyme Techniques
- Infant
- Laminin -- deficiency
- Male
- Membrane Glycoproteins -- deficiency
- Microsatellite Repeats
- Middle Aged
- Muscular Dystrophies -- congenital
- Mutation -- genetics
- Pedigree
- Pentosyltransferases
- Phenotype
- Polymerase Chain Reaction
- Proteins -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.