Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. [electronic resource]
Producer: 20090730Description: 795-803 p. digitalISSN:- 1098-1004
- Base Sequence
- Carbohydrate Metabolism, Inborn Errors -- enzymology
- DNA Mutational Analysis
- Fibroblasts -- enzymology
- Gene Expression Regulation, Enzymologic
- Genotype
- Glycosylation
- Humans
- Molecular Sequence Data
- Mutation -- genetics
- Phenotype
- Phosphotransferases (Phosphomutases) -- genetics
- RNA Splicing -- genetics
- RNA, Messenger -- genetics
- Reverse Transcriptase Polymerase Chain Reaction
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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