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 |
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| Records Return:
(3)
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| Catalog ID | Gender | Family | Relationship | Description | Collection_Type_id |
| GM00651 | Female | 18 | mother | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
| GM00649 | Male | 18 | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
| GM00650 | Male | 18 | father | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
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