Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

Human mutation

Volumn 20, Issue 5, 2002, Pages 406-

  Peters, Heidi L ^a   Nefedov, Mikhael ^a   Lee, Lai Wah ^a   Abdenur, Jose E ^a   Chamoles, Nestor A ^a   Kahler, Stephen G ^a   Ioannou, Panayiotis A ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ARTICLE; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; INBORN ERROR OF METABOLISM; MUTATION; URINE;

GENOTYPE; HUMANS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION; POLYMORPHISM, GENETIC;

EID: 0036832590     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9074     Document Type: Article

References (0)