Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms

Human Mutation

Volumn 8, Issue 4, 1996, Pages 333-339

  Leibundgut, Elisabeth Oppliger ^a   Wermuth, Bendicht ^a   Colombo, Jean Pierre ^a   Liechti Gallati, Sabina ^b  

^a Insehpital ^*  (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

OTC deficiency; PCR amplification; Polymorphisms

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HEREDITY; HUMAN; HYPERAMMONEMIA; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMMONIA; CHILD; CHILD, PRESCHOOL; EXONS; FATAL OUTCOME; FEMALE; GENE FREQUENCY; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MALE; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029801768     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<333::AID-HUMU6>3.0.CO;2-8     Document Type: Article

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