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Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive generalised lymphatic dysplasia of Fotiou (GLDF) and autosomal dominant dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two d...
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| Publicado no: | J Physiol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5851881/ https://ncbi.nlm.nih.gov/pubmed/29331020 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP275718 |
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