Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients-Reference-Cited by-同舟云学术

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Published:2003-06-04 Issue:1 Volume:22 Page:24-34
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Gao Hong-Zhi,Kobayashi Keiko,Tabata Ayako,Tsuge Hideaki,Iijima Mikio,Yasuda Tomotsugu,Kalkanoglu H. Serap,Dursun Ali,Tokatli Aysegul,Coskun Turgay,Trefz Friedrich K.,Skladal Daniela,Mandel Hanna,Seidel Joerg,Kodama Soichi,Shirane Seiko,Ichida Takafumi,Makino Shigeru,Yoshino Makoto,Kang Jong-Hon,Mizuguchi Masashi,Barshop Bruce A.,Fuchinoue Shohei,Seneca Sara,Zeesman Susan,Knerr Ina,Rodés Margarita,Wasant Pornswan,Yoshida Ichiro,De Meirleir Linda,Abdul Jalil Md.,Begum Laila,Horiuchi Masahisa,Katunuma Nobuhiko,Nakagawa Shiro,Saheki Takeyori

Funder

Health Sciences Research Grants from the Ministry of Health and Welfare in Japan

Grants-in-Aid for Scientific Research (B) from Japan Society for the Promotion of Science

the Kodama Foundation for Research in Medical Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference45 articles.

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2. A pediatric patient with classical citrullinemia who underwent living-related partial liver transplantation;Ban;Transplantation,2001

3. Sequence for human argininosuccinate synthetase cDNA;Bock;Nucleic Acids Res,1983

4. Molecular definition of bovine argininosuccinate synthetase deficiency;Dennis;Proc Natl Acad Sci USA,1989

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