Ornithine transcarbamylase deficiency: A novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

Molecular Genetics and Metabolism

Volumn 76, Issue 1, 2002, Pages 68-70

  Azevedo, Luísa ^a   Vilarinho, Laura ^b   Leão Teles, Elisa ^c   Amorim, António ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

Inborn error; Ornithine transcarbamylase; Polymorphism; Recombination; Splice mutation

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; MALE; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

FEMALE; HUMANS; INFANT; MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECOMBINATION, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 0036385704     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00013-6     Document Type: Article

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