Prenatal Monitoring in a Family at High Risk for Ornithine Transcarbamylase (OTC) Deficiency: A New Mutation of an A-to-C Transversion in Position +4 of Intron 1 of the OTC Gene That Is Likely to Abolish Enzyme Activity

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 64, Issue 3, 1996, Pages 459-464

  Hoshide, Ryuuji ^a   Matsuura, Toshinobu ^a   Sagara, Yusuke ^b   Kubo, Takahiko ^b   Shimadzu, Mitsunobu ^c   Endo, Fumio ^a   Matsuda, Ichiro ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c Mitsubishi Chemical Holdings   (Japan)

Author keywords

Base substitution; Ornithine transcarbamylase (OTC); Prenatal diagnosis; Urea cycle

Indexed keywords

DNA; MESSENGER RNA; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FETUS; HIGH RISK PATIENT; HUMAN; MALE; NORTHERN BLOTTING; NUCLEIC ACID BASE SUBSTITUTION; POLYADENYLATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

AMINO ACID METABOLISM, INBORN ERRORS; AMMONIA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FETAL MONITORING; GENES; HUMANS; INFANT, NEWBORN; INTRONS; LIVER; MALE; NUCLEAR PROTEINS; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; RNA, MESSENGER; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS;

EID: 0029843727     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960823)64:3<459::AID-AJMG3>3.0.CO;2-K     Document Type: Article

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