Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.

Ono, Hiroaki

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. [electronic resource] - Brain & development Oct 2003 - 525-8 p. digital

Publication Type: Case Reports; Journal Article

0387-7604

10.1016/s0387-7604(03)00063-9 doi


Codon, Nonsense
Congenital Disorders of Glycosylation--genetics
DNA Mutational Analysis
Exons
Genotype
Humans
Infant
Male
Phosphotransferases (Phosphomutases)--genetics