Conclusions The splicing mutation of COL7A1 gene is the underlying cause of and specific rather than common polymorphism for the family with dystrophicepidermolysisbullosa pruriginosa subtype.
结论COL7A1基因剪接位点的突变是引起该家系临床症状的特异突变，而非多态性改变。
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Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysisbullosa, lesions of the mouth mucosa, and dystrophic nails.