Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).

Human mutation

Volumn 28, Issue 10, 2007, Pages 1045-

  Gradinger, Abigail B ^a   Bélair, Caroline ^a   Worgan, Lisa C ^a   Li, Carter D ^a   Lavallée, Jocelyne ^a   Roquis, David ^a   Watkins, David ^a   Rosenblatt, David S ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ISOMERASE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A RACEMASE; METHYLMALONYL-COENZYME A RACEMASE; UNCLASSIFIED DRUG;

ARTICLE; CELL LINE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; FIBROBLAST; GENETICS; HOMOZYGOTE; HUMAN; INFANT; MALE; METABOLISM; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE;

AMINO ACID METABOLISM, INBORN ERRORS; CELL LINE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLMALONIC ACID; MUTATION; PHENOTYPE; RACEMASES AND EPIMERASES;

EID: 35448943956     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9507     Document Type: Article

References (0)