Genetic heterogeneity in propionic acidemia patients with α-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1453, Issue 3, 1999, Pages 351-358

  Richard, Eva ^a   Desviat, Lourdes R ^a   Pérez, Belén ^a   Pérez Cerdá, Celia ^a   Ugarte, Magdalena ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Mitochondrial import; Mitochondrial stability; Mutation; PCCA gene; Propionic acidemia

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MITOCHONDRION; MUTANT; MUTATION; NORTHERN BLOTTING; POINT MUTATION; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN STABILITY; SKIN FIBROBLAST;

ACID-BASE IMBALANCE; ANIMALS; BLOTTING, NORTHERN; CARBOXY-LYASES; CLONING, MOLECULAR; CODON, NONSENSE; DNA, COMPLEMENTARY; HUMANS; METHYLMALONYL-COA DECARBOXYLASE; MITOCHONDRIA, LIVER; MUTATION; PROPIONIC ACIDS; RATS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0033048394     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(99)00008-3     Document Type: Article

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