Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

Human Molecular Genetics

Volumn 8, Issue 1, 1999, Pages 107-113

  Campeau, Eric ^a   Dupuis, Lucie ^a   Leclerc, Daniel ^a   Gravel, Roy A ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROPIONYL COENZYME A CARBOXYLASE;

ARTICLE; CELL LINE; FIBROBLAST; FRAMESHIFT MUTATION; GENE INSERTION; HUMAN; HUMAN CELL; INTRON; NONSENSE MUTATION; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

BASE SEQUENCE; CARBOXY-LYASES; CELL LINE; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DRUG STABILITY; HUMANS; METABOLISM, INBORN ERRORS; METHYLMALONYL-COA DECARBOXYLASE; MOLECULAR SEQUENCE DATA; MUTATION; PROPIONIC ACIDS; PROTEIN CONFORMATION; RNA SPLICING; RNA, MESSENGER;

EID: 0032907125     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.1.107     Document Type: Article

References (36)

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