N219Y, a new frequent mutation among mut forms of methylmalonic acidemia in Caucasian patients

European Journal of Human Genetics

Volumn 9, Issue 8, 2001, Pages 577-582

  Acquaviva, Cecile ^a   Benoist, Jean François ^a   Callebaut, Isabelle ^b   Guffon, Nathalie ^c   Ogier De Baulny, Hélène ^a   Touati, Guy ^d   Aydin, Ahmet ^e   Porquet, Dominique ^a   Elion, Jacques ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HÔPITAL DEBROUSSE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Caucasian; Methylmalonic acidemia; Methylmalonyl CoA mutase; Mutation

Indexed keywords

ADENINE; METHYLMALONYL COENZYME A MUTASE; THYMINE;

AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FRANCE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HOMOZYGOTE; HUMAN; JAPAN; MALE; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; MUTAGENESIS; NEGRO; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROPIONIBACTERIUM FREUDENREICHII SHERMANII; PROTEIN FOLDING; PROTEIN MOTIF; PROTEIN SECONDARY STRUCTURE; PROTEIN STABILITY; TURKEY (REPUBLIC);

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASPARAGINE; CHILD; CHILD, PRESCHOOL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; INFANT; LIPID METABOLISM, INBORN ERRORS; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; TYROSINE;

PROPIONIBACTERIUM; PROPIONIBACTERIUM FREUDENREICHII SUBSP. SHERMANII;

EID: 0034891413     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200675     Document Type: Article

References (17)

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