A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. [electronic resource]
Producer: 20131231Description: 535-42 p. digitalISSN:- 1573-2665
- Adolescent
- Carbohydrate Metabolism -- genetics
- Carbohydrate Sequence
- Central Nervous System -- metabolism
- Congenital Disorders of Glycosylation -- classification
- DNA Mutational Analysis
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense -- physiology
- Phosphoglucomutase -- genetics
- Polymorphism, Single Nucleotide -- physiology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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