A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene

被引：17

作者：

Ito, S

Kurasawa, G

Yamamoto, K

Furuta, I

Ishihara, F

Kobayashi, K

Saheki, T

Matsuura, T

Yamauchi, M

Kakinoki, H

机构：

[1] Atsugi Kanagawa Prefecture Hosp, Dept Internal Med, Atsugi, Kanagawa, Japan

[2] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 890, Japan

[3] Jikei Univ, Sch Med, Dept Internal Med, Tokyo, Japan

[4] Kakinoki Hosp, Kagoshima, Japan

来源：

JOURNAL OF GASTROENTEROLOGY | 2004年 / 39卷 / 11期

关键词：

Public Health; Internal Medicine; Missense Mutation; Hepatic Failure; Pregnant Patient;

D O I：

10.1007/s00535-004-1455-1

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：1115 / 1117

页数：3

共 2 条

[1] Identification of 16 novel mutations in the arglininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients [J].

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Tsuge, H ;

Iijima, M ;

Yasuda, T ;

Kalkanoglu, HS ;

Dursun, A ;

Tokatli, A ;

Coskun, T ;

Trefz, FK ;

Skladal, D ;

Mandel, H ;

Seidel, J ;

Kodama, S ;

Shirane, S ;

Ichida, T ;

Makino, S ;

Yoshino, M ;

Kang, JH ;

Mizuguchi, M ;

Barshop, BA ;

Fuchinoue, S ;

Seneca, S ;

Zeesman, S ;

Knerr, I ;

Rodés, M ;

Wasant, P ;

Yoshida, I ;

De Meirleir, L ;

Jalil, MA ;

Begum, L ;

Horiuchi, M ;

Katunuma, N ;

Nakagawa, S ;

Saheki, T .

HUMAN MUTATION, 2003, 22 (01) :24-34

[2]

KURASAWA G, 1998, KANTO J OBSTET GYNEC, V35, P3

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