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Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
Type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins. Here we show that the molecular defect in the index patient is a missense mutation in...
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| Main Authors: | , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1999
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1171744/ https://ncbi.nlm.nih.gov/pubmed/10581255 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/emboj/18.23.6816 |
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