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 |
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| Records Return:
(1)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM01655 | Female | 5 YR | 1905 | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
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