Publication
| Fisher CW, Chuang JL, Griffin TA, Lau KS, Cox RP, Chuang DT, Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex. J Biol Chem264:3448-53 1989 |
| PubMed ID: 2914958 |
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| Records Return:
(3)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM01366 | Female | 7 YR | 20 | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE II | GM |
| GM11150 | Female | | | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
| GM11151 | Female | | | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
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