Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Tammachote, R ^a   Tongkobpetch, S ^a   Desudchit, T ^a   Suphapeetiporn, K ^a,b   Shotelersuk, V ^a  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); PRIMER DNA;

ADULT; ARTICLE; CASE REPORT; CONSANGUINITY; ENZYMOLOGY; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; MALE; MAPLE SYRUP URINE DISEASE; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; STOP CODON;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); BASE SEQUENCE; CHILD, PRESCHOOL; CODON, NONSENSE; CONSANGUINITY; DNA PRIMERS; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MAPLE SYRUP URINE DISEASE; PREGNANCY; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 84880973231     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1022-2     Document Type: Article

References (10)

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