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Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations
Pachyonychia congenita (PC) is a rare, autosomal dominant keratin disorder caused by mutations in four genes (KRT6A, KRT6B, KRT16, or KRT17). The International PC Research Registry is a database with information on patients' symptoms as well as genotypes. We sought to describe the heterogeneity...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3775566/ https://ncbi.nlm.nih.gov/pubmed/21160496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2010.373 |
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