Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. [electronic resource]
Producer: 20040114Description: 1341-4 p. digitalISSN:- 1526-632X
- Amino Acid Substitution
- Chromosomes, Human, Pair 19 -- genetics
- Consanguinity
- Cytoskeletal Proteins -- metabolism
- Dystroglycans
- Genes, Recessive
- Glycosylation
- Humans
- Laminin -- deficiency
- Membrane Glycoproteins -- metabolism
- Muscle, Skeletal -- chemistry
- Muscular Dystrophies -- blood
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Pentosyltransferases
- Point Mutation
- Protein Processing, Post-Translational
- Proteins
- Reverse Transcriptase Polymerase Chain Reaction
- Tunisia
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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