Case Reports
[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene]
[Article in
Chinese]
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- PMID: 12579493
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Case Reports
[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene]
[Article in
Chinese]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi.
2003 Feb.
Abstract
Objective: To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.
Methods: Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.
Results: A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.
Conclusion: The E122G mutation in human OTC gene may cause late onset OTC deficiency.
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