High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 86-89

  Illson, Margaret L ^a   Dempsey Nunez, Laura ^a   Kent, Jana ^b   Huang, Qiuying ^b   Brebner, Alison ^a   Raff, Michael L ^c   Watkins, David ^a   Gilfix, Brian M ^a   Wittwer, Carl T ^b   Rosenblatt, David S ^a  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^c Multicare Health System   (United States)

Author keywords

CblB; Cobalamin; High resolution melting analysis; Methylmalonic aciduria; MMAB

Indexed keywords

COBALAMIN; MMAB PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; COB(I)ALAMIN ADENOSYLTRANSFERASE; COBAMAMIDE; CYANOCOBALAMIN; METHYLMALONYL COENZYME A MUTASE; TRANSFERASE;

ARTICLE; CASE REPORT; CYANOCOBALAMIN DEFICIENCY; FEMALE; FIBROBLAST; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; METHYLMALONIC ACIDURIA; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; AMINO ACID METABOLISM, INBORN ERRORS; CHEMISTRY; DNA DENATURATION; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY;

ALKYL AND ARYL TRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; COBAMIDES; FEMALE; HUMANS; MALE; METHYLMALONYL-COA MUTASE; MUTATION; NUCLEIC ACID DENATURATION; VITAMIN B 12;

EID: 84882925186     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.020     Document Type: Article

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