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Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis (EH) is a rare autosomal dominant skin disease. Recent studies in our laboratory established genetic linkage to the type II keratin gene locus on chromosome 12q in one family with EH and identified a single amino acid mutation in keratin 1 that is responsible for the dis...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
1994
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1918158/ https://ncbi.nlm.nih.gov/pubmed/7508181 |
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