Publication

Chuang JL, Fisher CR, Cox RP, Chuang DT, Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady- state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Am J Hum Genet55:297-304 1994
PubMed ID: 8037208

Records Return:  (3) Show
 
Catalog IDGenderFamilyRelationshipDescription
GM00651Female18motherMAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
GM00649Male18probandMAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
GM00650Male18fatherMAPLE SYRUP URINE DISEASE (MSUD), TYPE IA