Publication
| Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT, Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. J Clin Invest95:954-63 1995 |
| PubMed ID: 7883996 |
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| Records Return:
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM00649 | Male | 9 MO | 18 | proband | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
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