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A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome
Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin disorder, which results in symptoms including blistering, epidermal atrophy, increased risk of cancer, and poor wound healing. The majority of mutations of the disease-determining gene (FERMT1 gene) are single nucleotide substitut...
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| Publicat a: | J Zhejiang Univ Sci B |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Zhejiang University Press
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4642877/ https://ncbi.nlm.nih.gov/pubmed/26537214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1500080 |
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