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A novel SPINK5 donor splice site variant in a child with Netherton syndrome
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 of a le...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104165/ https://www.ncbi.nlm.nih.gov/pubmed/33534181 http://dx.doi.org/10.1002/mgg3.1611 |