POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. [electronic resource]
Producer: 20040719Description: 1009-11 p. digitalISSN:- 1526-632X
- Abnormalities, Multiple -- genetics
- Action Potentials
- Brain -- abnormalities
- Child, Preschool
- Conserved Sequence
- Creatine Kinase -- blood
- Cytoskeletal Proteins -- deficiency
- DNA Mutational Analysis
- Dystroglycans
- Electroencephalography
- Eye Abnormalities -- genetics
- Humans
- Immunoblotting
- Immunohistochemistry
- Japan
- Magnetic Resonance Imaging
- Male
- Mannosyltransferases -- genetics
- Membrane Glycoproteins -- deficiency
- Muscular Dystrophies -- congenital
- Nervous System Malformations -- diagnosis
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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