High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 363-367

  Dempsey Nunez, Laura ^a   Illson, Margaret L ^a   Kent, Jana ^b   Huang, Qiuying ^b   Brebner, Alison ^a   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)

Author keywords

CblA; Cobalamin; High resolution melting analysis; Methylmalonic aciduria; MMAA; Scanning

Indexed keywords

COBALAMIN A; COBALAMIN DERIVATIVE; METHYLMALONIC ACID; UNCLASSIFIED DRUG;

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; EXON; GENE; GENE DELETION; GENE DUPLICATION; GENETIC CODE; GENETIC COMPLEMENTATION; GENETIC VARIABILITY; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; MMAA GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REFERENCE VALUE; RNA SPLICING; SOMATIC CELL;

AMINO ACID METABOLISM, INBORN ERRORS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INTRONS; METHYLMALONIC ACID; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; NUCLEIC ACID DENATURATION; VITAMIN B 12;

EID: 84867898539     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.012     Document Type: Article

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