A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene.
Ito
Shun
S
Kurasawa
Gotaro
G
Yamamoto
Kyoko
K
Furuta
Izumi
I
Ishihara
Fumitake
F
Kobayashi
Keiko
K
Saheki
Takeyori
T
Matsuura
Tomokazu
T
Yamauchi
Masayoshi
M
Kakinoki
Hiroshige
H
D000328:Adult; D001124:Argininosuccinate Synthase / Q000235:genetics*; D020159:Citrullinemia / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D017114:Liver Failure, Acute / Q000150:complications* / Q000235:genetics / Q000473:pathology; D020125:Mutation, Missense; D011247:Pregnancy; D011248:Pregnancy Complications
D001124:Argininosuccinate Synthase