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PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for simil...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Case Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6389502/ https://ncbi.nlm.nih.gov/pubmed/30847201 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1947 |
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