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X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 3...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1999
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1378074/ https://ncbi.nlm.nih.gov/pubmed/10364516 |
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