Genes > OTC >

References

These sources were used to develop the Genetics Home Reference gene summary on the OTC gene.

Azevedo L, Calafell F, Vilarinho L, Amorim A. Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms. Ann Hum Genet. 2002 Nov;66(Pt 5-6):379-85. PubMed citation
Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A. Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene. Hum Mutat. 2004 Sep;24(3):273. PubMed citation
Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L. New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Mol Genet Metab. 2003 Feb;78(2):152-7. PubMed citation
Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. Mol Genet Metab. 2002 Jun;76(2):137-44. PubMed citation
Climent C, Rubio V. H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency. Hum Mutat. 2002 Nov;20(5):407-8. PubMed citation
Climent C, Rubio V. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. Hum Mutat. 2002 Feb;19(2):185-6. PubMed citation
Entrez Gene
Gene Review: Urea Cycle Disorders
Mavinakere M, Morizono H, Shi D, Allewell NM, Tuchman M. The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells. J Inherit Metab Dis. 2001 Nov;24(6):614-22. PubMed citation
OMIM: ORNITHINE CARBAMOYLTRANSFERASE
Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat. 2002 Feb;19(2):93-107. Review. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources