Publication
| Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B, Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) Human mutation16:386-94 2000 |
| PubMed ID: 11058895 |
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| Records Return:
(1)
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| Catalog ID | Gender | Age at Sampling | Description | Collection_Type_id |
| GM20945 | Female | 7 YR | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | GM |
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