A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness (Q36891544)
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scientific article published on 11 September 2008
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness |
scientific article published on 11 September 2008 |
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A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness (English)
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Eugene A de Zwart-Storm
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Michel van Geel
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Pierre A F A van Neer
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Peter M Steijlen
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Patricia E Martin
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Maurice A M van Steensel
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11 September 2008
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1113-1119
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