Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.
D018389:Codon, Nonsense; D018981:Congenital Disorders of Glycosylation / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*
D018389:Codon, Nonsense; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase