A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
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| Description | scientific article published on 18 February 2010 |
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author: Katsushi Owaribe Jemima Mellerio John Mcgrath Takashi Hashimoto |
| Publication date | February 18, 2010 |
| Language | English |
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