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Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review
BACKGROUND: Hailey–Hailey disease (HHD; OMIM: 169600) is an autosomal dominate genodermatosis, characterized by recurrent blisters and erosions clinically and remarkable acantholysis pathologically. The underlying pathogenic factor is the mutation of ATP2C1 gene (OMIM: 604384), which encodes secreto...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8077163/ https://ncbi.nlm.nih.gov/pubmed/33345454 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1580 |
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