Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype...
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
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Author / Creator
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 and Saheki, Takeyori
Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
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Publication information
Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Subjects
More information
Scope and Contents
Contents
Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate‐limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japan and the United States, and to...
Alternative Titles
Full title
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_73380207
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_73380207
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.10230
