2006
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation 2006, 27: 626-632. PMID: 16786505, DOI: 10.1002/humu.20339.Peer-Reviewed Original Research
1999
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.Peer-Reviewed Original Research
1991
Ornithine transcarbamylase polymorphism detected by PCR introduction of Dral site
Petty E, Carstens R, Bale A. Ornithine transcarbamylase polymorphism detected by PCR introduction of Dral site. Nucleic Acids Research 1991, 19: 690-690. PMID: 2011544, PMCID: PMC333689, DOI: 10.1093/nar/19.3.690.Peer-Reviewed Original ResearchBase SequenceHumansMolecular Sequence DataOligonucleotidesOrnithine CarbamoyltransferasePolymerase Chain ReactionPolymorphism, GeneticX Chromosome