Molecular analysis of PCCB gene in Korean patients with propionic acidemia

Molecular Genetics and Metabolism

Volumn 77, Issue 3, 2002, Pages 209-216

  Kim, Soon Nam ^a   Ryu, Kyung Hwa ^a   Lee, Eun Ha ^a   Kim, Jong Soo ^a   Hahn, Si Houn ^b  

^a Ajou University School of Medicine   (South Korea)

^b MAYO CLINIC   (United States)

Author keywords

Mutations; PCCB gene; Phenotype and genotype correlations; Propionic acidemia; Propionyl CoA carboxylase

Indexed keywords

ISOENZYME; MESSENGER RNA; PROPIONIC ACID; PROPIONYL COENZYME A CARBOXYLASE; LIGASE; PROPIONIC ACID DERIVATIVE; PROPIONYL COA CARBOXYLASE (ATP HYDROLYZING); PROPIONYL COA CARBOXYLASE (ATP-HYDROLYZING);

ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME SUBUNIT; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INFANT; KOREA; LYMPHOBLAST; MALE; NEWBORN; NULL ALLELE; ONSET AGE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; RNA ANALYSIS; BLOOD; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; WESTERN BLOTTING;

BLOTTING, WESTERN; CARBON-CARBON LIGASES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KOREA; MALE; PROPIONIC ACIDS;

EID: 0036432305     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00139-7     Document Type: Article

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