Molecular genetics of maple syrup urine disease in the Turkish population

Turkish Journal of Pediatrics

Volumn 51, Issue 2, 2009, Pages 97-102

  Gorzelany, Kerstin ^a   Dursun, Ali ^b   Coşkun, Turgay ^b   Kalkanoǧlu Sivri, Serap H ^b   Gökçay, Gülden Fatma ^c   Demirkol, Mübeccel ^c   Feyen, Oliver ^a   Wendel, Udo ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b HACETTEPE UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

BCKDHA; BCKDHB; Branched chain keto acid dehydrogenase complex; DBT; Maple syrup urine disease

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); 2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE) A; 2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE) B; ADENINE; CYSTEINE; DIHYDROLIPOAMIDE ACETYLTRANSFERASE; GUANINE; TYROSINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAPLE SYRUP URINE DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POPULATION RESEARCH; SEQUENCE ANALYSIS; TURKEY (REPUBLIC);

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); CODON, NONSENSE; COHORT STUDIES; CONSANGUINITY; GENOTYPE; HOMOZYGOTE; HUMANS; MAPLE SYRUP URINE DISEASE; MOLECULAR BIOLOGY; MUTATION; MUTATION, MISSENSE; POINT MUTATION; TURKEY;

EID: 67149085957     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

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