Expanding the clinical spectrum of POMT1 phenotype. [electronic resource]
Producer: 20060628Description: 1564-7; discussion 1461 p. digitalISSN:- 1526-632X
- Adolescent
- Age of Onset
- Child, Preschool
- Codon, Nonsense
- Contracture -- genetics
- Disease Progression
- Female
- Glycosylation
- Humans
- Hypertrophy
- Infant
- Intellectual Disability -- genetics
- Leg -- pathology
- Magnetic Resonance Imaging
- Male
- Mannosyltransferases -- deficiency
- Microcephaly -- genetics
- Muscular Dystrophies -- genetics
- Mutation, Missense
- Phenotype
- Point Mutation
- Protein Processing, Post-Translational
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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