Identification of four novel splice site mutations in the ornithine transcarbamylase gene

Human Genetics

Volumn 97, Issue 2, 1996, Pages 209-213

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

^a UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FEMALE; HUMAN; HUMAN CELL; HYPERAMMONEMIA; INTRON; MALE; MUSCLE HYPOTONIA; NEWBORN; NEWBORN DISEASE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RNA SPLICING;

AMINO ACID METABOLISM, INBORN ERRORS; AMMONIA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING;

EID: 0030046446     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265267     Document Type: Article

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