Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: Understanding a variant presentation of maple syrup urine disease

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Fernández Guerra, Paula ^a,c   Navarrete, Rosa ^a,c   Weisiger, Kara ^b   Desviat, Lourdes R ^a,c   Packman, Seymour ^b   Ugarte, Magdalena ^a,c   Rodríguez Pombo, Pilar ^a,c  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); MESSENGER RNA;

ALTERNATIVE RNA SPLICING; BIOLOGY; CASE REPORT; CHILD; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETICS; HUMAN; INTRON; MALE; MAPLE SYRUP URINE DISEASE; METABOLISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; SEVERITY OF ILLNESS INDEX; TUMOR CELL LINE; ARTICLE;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); ALTERNATIVE SPLICING; CELL LINE, TUMOR; CHILD; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INTRONS; MALE; MAPLE SYRUP URINE DISEASE; PHENOTYPE; POINT MUTATION; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 84897927499     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9077-7     Document Type: Article

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