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A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from...
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| Glavni autori: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hindawi Publishing Corporation
2012
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3820470/ https://ncbi.nlm.nih.gov/pubmed/24278723 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6064/2012/649090 |
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