1: Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):19-22.

[Molecular characterization of a new mutation E122G of human ornithine
transcarbamylase gene]

[Article in Chinese]

Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS.

Da-An Gene Diagnostic Center, Sun Yat-Sen University, Guangzhou, Guangdong, PR
China.

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.


PMID: 12579493 [PubMed - indexed for MEDLINE]