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Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmo...
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| Publicat a: | Am J Hum Genet |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7332602/ https://ncbi.nlm.nih.gov/pubmed/32516568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.013 |
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