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 ResearchAmino Acid SequenceFemaleHumansMaleMolecular Sequence DataMutation, MissenseOrnithine CarbamoyltransferaseOrnithine Carbamoyltransferase Deficiency DiseasePolymorphism, GeneticSequence Analysis, Protein
1999
Prenatal diagnosis of ornithine transcarbamylase deficiency
Bale A. Prenatal diagnosis of ornithine transcarbamylase deficiency. Prenatal Diagnosis 1999, 19: 1052-1054. PMID: 10589058, DOI: 10.1002/(sici)1097-0223(199911)19:11<1052::aid-pd693>3.0.co;2-2.Peer-Reviewed Original ResearchFemaleGenetic CounselingGenetic TestingHumansMaleOrnithine Carbamoyltransferase Deficiency DiseasePregnancyPrenatal DiagnosisPrenatal 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 ResearchFemaleGlutamic AcidGlycineHumansInfantMaleOrnithine CarbamoyltransferaseOrnithine Carbamoyltransferase Deficiency DiseasePoint MutationPregnancyPrenatal Diagnosis