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June 4, 2009British Journal of Dermatology82 citations

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

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JKJohannes S. KernGGG. GrüningerRIR. Imsak

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Abstract

Taken together, the results suggest that the MMP1 SNP is not the sole disease modifier in different forms of DEB, and other genetic and environmental factors contribute to the clinical phenotype.

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Kern et al. (2009) studied this question.

synapsesocial.com/papers/69d7505cf182769aa8b8a3e6https://doi.org/10.1111/j.1365-2133.2009.09333.x
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