Genetic analysis of three genes causing isolated methylmalonic acidemia: Identification of 21 novel allelic variants

Molecular Genetics and Metabolism

Volumn 84, Issue 4, 2005, Pages 317-325

  Martínez, Maria Angeles ^a   Rincón, Ana ^a   Desviat, Lourdes R ^a   Merinero, Begoña ^a   Ugarte, Magdalena ^a   Pérez, Belén ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

cblA; cblB; Cobalamin; MCM; Methylmalonic aciduria; MethylmalonylCoA mutase; MMA; Mutations

Indexed keywords

ADENINE NUCLEOTIDE; CARRIER PROTEIN; COMPLEMENTARY DNA; GENOMIC DNA; GUANINE NUCLEOTIDE; METHYLMALONYL COENZYME A MUTASE; PYRIMIDINE NUCLEOTIDE;

ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE LOCATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATIENT CODING; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPAIN;

EID: 15244361704     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.11.011     Document Type: Article

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