Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. [electronic resource]
Producer: 20050617Description: 342-8 p. digitalISSN:- 0960-8966
- Blotting, Western
- Brain -- pathology
- Child, Preschool
- DNA Mutational Analysis
- Dystroglycans -- deficiency
- Electroencephalography -- methods
- Female
- Glycosylation
- Guanine Nucleotide Exchange Factors -- genetics
- Humans
- Immunohistochemistry -- methods
- Infant
- Japan -- epidemiology
- Magnetic Resonance Imaging -- methods
- Male
- Mannosyltransferases -- genetics
- Membrane Proteins
- Muscle, Skeletal -- metabolism
- Muscular Dystrophies -- genetics
- Mutation
- N-Acetylglucosaminyltransferases -- genetics
- Pentosyltransferases
- Polymorphism, Single-Stranded Conformational
- Proteins -- genetics
- Rho Guanine Nucleotide Exchange Factors
- Staining and Labeling -- methods
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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