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...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2025-01-01
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| Colecção: | Case Reports in Genetics |
| Acesso em linha: | http://dx.doi.org/10.1155/crig/5109434 |
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