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A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability
BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) mainly results from gene mutations in the EDA/EDAR/NF‐κB pathway. Function analysis of the mutations in the collagen domain of ectodysplasin A (EDA)result in HED has been rarely studied. This study aimed at determining the mechanism by which the no...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094068/ https://www.ncbi.nlm.nih.gov/pubmed/36448232 http://dx.doi.org/10.1002/mgg3.2119 |