Publication
| Matsuda I, Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Asaka J, Harada A, A T-to-A substitution in the E1 alpha subunit gene of the branched- chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients. Biochem Biophys Res Commun172:646-51 1990 |
| PubMed ID: 2241958 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM01099 | Female | 8 MO | 266 | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
| GM01655 | Female | 5 YR | 1905 | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
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