Publication
Mononen I, Heisterkamp N, Kaartinen V, Mononen T, Williams JC, Groffen J, Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene. J Biol Chem267:3196-9 1992 |
PubMed ID: 1737774 |
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Records Return:
(2)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM05372 | Female | 53 YR | 722 | proband | HUMAN ERYTHROLEUKEMIC CELL LINES | GM |
GM03560 | Male | 10 YR | | proband | ASPARTYLGLUCOSAMINURIA | GM |
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