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Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase
Deficiency of dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). Clinically this type resembles the classical type Ia of CDGS caused by the deficiency of phosphomannomutase. As a result of t...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The National Academy of Sciences
1998
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC23759/ https://ncbi.nlm.nih.gov/pubmed/9789065 |
| Ετικέτες: |
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