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Is c.1431-12G>A a Common European Mutation of SPINK5? Report of a Patient with Netherton Syndrome
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the nove...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
De Gruyter
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343335/ https://www.ncbi.nlm.nih.gov/pubmed/28289593 http://dx.doi.org/10.1515/bjmg-2016-0040 |