A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.
Hwu
W L
WL
Kobayashi
K
K
Hu
Y H
YH
Yamaguchi
N
N
Saheki
T
T
Chou
S P
SP
Wang
J H
JH
D000328:Adult; D017668:Age of Onset; D000641:Ammonia / Q000097:blood; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002681:China; D002956:Citrulline / Q000008:administration & dosage / Q000097:blood / Q000627:therapeutic use; D020159:Citrullinemia / Q000097:blood / Q000145:classification / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics / Q000652:urine; D008099:Liver / Q000201:enzymology; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D002956:Citrulline; D000641:Ammonia