Publication

Fisher CR, Fisher CW, Chuang DT, Cox RP, Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Am J Hum Genet49:429-34 1991
PubMed ID: 1867199

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01655Female5 YR1905probandMAPLE SYRUP URINE DISEASE (MSUD), TYPE IA