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- 2019
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Mark
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”
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- Contribution to journal › Article
- 2017
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Mark
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
(
- Contribution to journal › Article
- 2016
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Mark
Spectrum of autosomal recessive congenital ichthyosis in scandinavia : Clinical characteristics and novel and recurrent mutations in 132 patients
(
- Contribution to journal › Article