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...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Mintoff, Dillon, Borg, Isabella, Vornweg, Julia, Mercieca, Liam, Merdzanic, Rijad, Numrich, Johannes, Aquilina, Susan, Pace, Nikolai Paul, Fischer, Judith
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104165/
https://ncbi.nlm.nih.gov/pubmed/33534181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1611
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