Ontology highlight
ABSTRACT:
SUBMITTER: Vuillaumier-Barrot S
PROVIDER: S-EPMC1734666 | biostudies-other | 2000 Aug
REPOSITORIES: biostudies-other
Vuillaumier-Barrot S S Hetet G G Barnier A A Dupré T T Cuer M M de Lonlay P P Cormier-Daire V V Durand G G Grandchamp B B Seta N N
Journal of medical genetics 20000801 8
We screened 11 unrelated French patients with congenital disorders of glycosylation (CDG) Ia for PMM2 mutations. Twenty one missense mutations on the 22 chromosomes (95%) including four novel mutations were identified: C9Y (G26A) in exon 1, L32R (TA95GC) in exon 2, and T226S (C677G) and C241S (G722C) in exon 8. We studied the PMM activity of these four novel mutant proteins and of the R141H mutant protein in an E coli expression system. The T226S, C9Y, L32R, and C241S mutant proteins have decrea ...[more]