Seven novel mutations in mut methylmalonic aciduria

Human Mutation

Volumn 11, Issue 4, 1998, Pages 270-274

  Adjalla, Charles E ^a,b   Hosack, Angela R ^a   Gilfix, Brian M ^a   Lamothe, Estelle ^a   Sun, Sophie ^a   Chan, Adrian ^a   Evans, Stacey ^a   Matiaszuk, Nora V ^a   Rosenblatt, David S ^a  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITÉ DE LORRAINE   (France)

Author keywords

Methylmalonic aciduria; Methylmalonyl CoA mutase; Vitamin B12

Indexed keywords

METHYLMALONYL COENZYME A MUTASE;

AMINO ACID SUBSTITUTION; ARTICLE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; METHYLMALONIC ACIDEMIA; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; CELL LINE; CHROMOSOMES, HUMAN, PAIR 6; DNA; DNA PRIMERS; GENETIC COMPLEMENTATION TEST; HUMANS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0031956593     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T     Document Type: Article

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