Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).
Rocha
H
H
Unidade de Biologia Clínica do Instituto de Genética Médica Jacinto de Magalhães, Porto, Portugal. hugo.rocha@igmjm.pt
Cabral
A
A
Vilarinho
L
L
D019943:Amino Acid Substitution / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005973:Glutamine / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D011174:Portugal
D018389:Codon, Nonsense; D018388:Codon, Terminator; D005973:Glutamine; D005952:Glucose-6-Phosphatase