Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Quental, S ^a   Martins, E ^b   Vilarinho, L ^c   Amorim, A ^a   Prata, M Joâo ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b HOSPITAL MARIA PIA   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); BIOLOGICAL MARKER; BRANCHED CHAIN AMINO ACID;

ARTICLE; BLOOD; CASE REPORT; ENZYMOLOGY; EXON; GENE DELETION; GENETIC PREDISPOSITION; GENETIC RECOMBINATION; GENETICS; HUMAN; INTRON; MALE; MAPLE SYRUP URINE DISEASE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE MOTIF; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; UPREGULATION;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); AMINO ACIDS, BRANCHED-CHAIN; BASE SEQUENCE; BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MAPLE SYRUP URINE DISEASE; MOLECULAR SEQUENCE DATA; NUCLEOTIDE MOTIFS; PHENOTYPE; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC; SEQUENCE DELETION; UP-REGULATION;

EID: 84855616413     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1046-z     Document Type: Article

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