Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 419-423

  Dündar, Halil ^a   Özgül, Riza Köksal ^a   Güzel Ozantürk, Ayşegül ^a   Dursun, Ali ^a   Sivri, Serap ^a   Aliefendioǧlu, Didem ^b   Coşkun, Turgay ^a   Tokatli, Ayşegül ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b KIRIKKALE UNIVERSITY   (Turkey)

Author keywords

Methylmalonic acidemia; Microarray sequencing; MUT; Mutation

Indexed keywords

METHYLMALONYL COENZYME A MUTASE;

ARTICLE; CHILD; CLINICAL ARTICLE; DNA MICROARRAY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INFANT; MALE; METHYLMALONIC ACIDEMIA; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; TURKEY (REPUBLIC);

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLMALONYL-COA MUTASE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, GENETIC; SEQUENCE ALIGNMENT;

EID: 84864338778     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.014     Document Type: Article

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