A novel SPINK5 donor splice site variant in a child with Netherton syndrome
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression. Method Next‐generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies were performed by immunofluorescence microscopy...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Wiley
2021-03-01
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| Sraith: | Molecular Genetics & Genomic Medicine |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1002/mgg3.1611 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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