Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

American Journal of Medical Genetics

Volumn 85, Issue 5, 1999, Pages 452-454

  Bowling, Francis ^a,b   McGown, Ivan ^b   McGill, James ^c   Cowley, David ^b   Tuchman, Mendel ^d  

^a GRIFFITH UNIVERSITY   (Australia)

^b MATER HOSPITAL   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Gonadal mosaicism; Ornithine transcarbamylase deficiency; OTC; Urea cycle defects

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ACIDURIA; ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; ENZYME DEFECT; GENE MUTATION; GENOTYPE; HUMAN; HYPERAMMONEMIA; MALE; NEWBORN; PRIORITY JOURNAL;

ABORTION, INDUCED; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; CHORIONIC VILLI SAMPLING; EXONS; FEMALE; GENOMIC IMPRINTING; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POINT MUTATION; X CHROMOSOME;

EID: 0033609766     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990827)85:5<452::AID-AJMG4>3.0.CO;2-4     Document Type: Article

References (7)

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