Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega, Ana I

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. [electronic resource] - Human mutation May 2009 - 795-803 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20960 doi


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