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Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency |
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| Authors: | Yoko Aoki X Li Osamu Sakamoto Masahiro Hiratsuka Hiroshi Akaishi Liquing Xu Paz Briones Terttu Suormala E Regula Baumgartner Y Suzuki Kuniaki Narisawa |
| Institution: | (1) Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan Tel.: +81 22 717 8140; Fax: +81 22 717 8142, JP;(2) Institut Bioquimica Clinica, c/. Mejia Lequerica, s/n. Edifici Helios III, Planta Baixa, E-08028 Barcelona, Spain, ES;(3) Metabolic Unit, University Children’s Hospital, Roemergasse 8, CH-4005 Basal, Switzerland, CH |
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| 本文献已被 PubMed SpringerLink 等数据库收录！ | |