Propionic acidemia: Mutation update and functional and structural effects of the variant alleles

Molecular Genetics and Metabolism

Volumn 83, Issue 1-2, 2004, Pages 28-37

  Desviat, L R ^a   Perez B ^a   Perez Cerda C ^a   Rodriguez Pombo P ^a   Clavero, S ^a   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Expression analysis; Genotype phenotype; Mutations; PCCA; PCCB; Propionic acidemia; Propionyl CoA carboxylase; Structural models

Indexed keywords

ADENOSINE TRIPHOSPHATE; OLIGOMER; PROPIONYL COENZYME A CARBOXYLASE;

ALLELE; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE INHERITANCE; BINDING AFFINITY; CARBOXY TERMINAL SEQUENCE; CAUCASIAN; CRYSTAL; EUKARYOSIS; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; JAPAN; MODEL; NUCLEOTIDE SEQUENCE; POPULATION; PREVALENCE; PRIORITY JOURNAL; PROKARYOSIS; PROPIONIC ACIDEMIA; RNA SPLICING; SHORT SURVEY;

EUKARYOTA; PROKARYOTA;

EID: 4744348392     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.08.001     Document Type: Review

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