A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree.
نویسندگان
چکیده
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: [email protected]
منابع مشابه
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
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The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragenic OTC polymorphisms may allow detection of these deletions and may represent an alternative to m...
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Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Although a combination of molecular methods have been used including DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene, only approximately 80% of patients with OTC deficiency are found to have mutations. We report two known and three novel mutations of the OTC gene in five Japanese...
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ورودعنوان ژورنال:
- Human mutation
دوره 14 5 شماره
صفحات -
تاریخ انتشار 1999