Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

Human Genetics

Volumn 97, Issue 3, 1996, Pages 274-276

  Tuchman, Mendel ^a   Plante, Robert J ^a   García Pérez, Miguel Angel ^b   Rubio, Vicente ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b Fund Valenciana de Invest Biomed   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; DELETION MUTANT; ENZYME DEFICIENCY; EXON; FAMILIAL DISEASE; GENE INSERTION SEQUENCE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MUTATION RATE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

FEMALE; HUMANS; MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030039992     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185751     Document Type: Article

References (12)

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