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

Author： Tammachote R.   Tongkobpetch S.   Desudchit T.   Suphapeetiporn K.   Shotelersuk V.  

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.32, Iss.1, 2009-12, pp. : 33-36

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