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A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree
Author(s) -
Khoo A.S.B.,
Balraj P.,
Rachedi A.,
Chin C.N.,
Volpi L.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199911)14:5<448::aid-humu14>3.0.co;2-t
Subject(s) - ornithine transcarbamylase , biology , genetics , mutation , ornithine carbamoyltransferase , gene , urea cycle , ornithine , arginine , amino acid
Authors: A.S.B. Khoo , P. Balraj , A. Rachedi , C.N. Chin , and L. Volpi Affiliations: 1 Division of Molecular Pathology, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia; 2 Centre for Gene Analysis and Technology, Faculty of Life Science, National University of Malaysia, 43000 Bangi, Malaysia (Current Address: Department of Biochemistry, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong); 3 Department of Pediatrics, Kuantan Hospital, Kuantan, Malaysia Corresponding Author Address and E-mail: Dr. Alan Khoo, Division of Molecular Pathology, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia Phone: +(603)-4402421/4402423 Fax: +(603)-2934114 E-mail: alankhoo@imr.gov.my