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A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.
J Dermatol Sci. 2017 Oct;88(1):139-141. doi: 10.1016/j.jdermsci.2017.03.022. Epub 2017 Apr 10.
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A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.
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Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.
J Dermatol. 2014 Apr;41(4):350-1. doi: 10.1111/1346-8138.12356. Epub 2014 Feb 18.
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Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
J Dermatol. 2013 Jan;40(1):59-61. doi: 10.1111/j.1346-8138.2012.01666.x. Epub 2012 Sep 14.
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A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.
Br J Dermatol. 2006 Oct;155(4):838-40. doi: 10.1111/j.1365-2133.2006.07397.x.

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