Spectrum of mutations in mut methylmalonic acidemia and identification of a common hispanic mutation and haplotype

Human Mutation

Volumn 27, Issue 1, 2006, Pages 31-43

  Worgan, Lisa C ^a,b,c   Niles, Kirsten ^b,c   Tirone, Jamie C ^a,b,c   Hofmann, Adam ^a,b,c   Verner, Andrei ^b   Sammak, Alya'a ^b   Kucic, Terrence ^a,b,c   Lepage, Pierre ^b   Rosenblatt, David S ^a,b,c,d  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

Methylmalonic acid; Methylmalonyl CoA mutase; MUT

Indexed keywords

COBALAMIN; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; MITOCHONDRIAL ENZYME;

AMERICAN INDIAN; ARAB; ARTICLE; ASIAN; CAUCASIAN; CELL LINE; CHINESE; CHOREOATHETOSIS; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ETHNOLOGY; EXON; FIBROBLAST; FILIPINO; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENETIC COMPLEMENTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HISPANIC; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INDIAN; INFANTILE SPASM; LACTIC ACIDOSIS; MAJOR CLINICAL STUDY; METABOLIC ACIDOSIS; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; MUT GENE; MUTATIONAL ANALYSIS; NEGRO; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PACIFIC ISLANDER; PERCEPTION DEAFNESS; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN INFANT DEATH SYNDROME;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; CELL LINE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC COMPLEMENTATION TEST; HAPLOTYPES; HISPANIC AMERICANS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; METHYLMALONYL-COA MUTASE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 29944442438     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20258     Document Type: Article

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