Publication
| Reichardt JK, Packman S, Woo SL, Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet49:860-7 1991 |
| PubMed ID: 1897530 |
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| Records Return:
(3)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM11764 | Female | 53 YR | 1440 | mother | GALACTOSEMIA | GM |
| GM10402 | Male | 45 YR | 1440 | father | GALACTOSEMIA | GM |
| GM11763 | Male | 30 YR | 1440 | proband | GALACTOSEMIA | GM |
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