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Novel deletion mutation in a Chinese family with X-linked alport syndrome
Backgrounds and Objectives: alport syndrome (AS) is a progressive hereditary condition that is characterized by haematuria, proteinuria, progressive renal impairment, and end stage kidney disease (ESRD). Approximately 85% of AS patients have X-linked mutations in the COL4A5 gene that encodes type IV...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Int J Clin Exp Pathol |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
e-Century Publishing Corporation
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6962970/ https://ncbi.nlm.nih.gov/pubmed/31949866 |
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