Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, HYDIN, presents a diagnostic challenge due to the existence of HYDIN2, a high...
Сохранить в:
| Главные авторы: | , , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wiley
2025-01-01
|
| Серии: | Case Reports in Genetics |
| Online-ссылка: | http://dx.doi.org/10.1155/crig/5109434 |
| Метки: |
Нет меток, Требуется 1-ая метка записи!
|