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PubMed (cited) for id: 619599
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A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.
JAAD Case Rep. 2019 Jun 26;5(7):576-579. doi: 10.1016/j.jdcr.2019.03.025. eCollection 2019 Jul.
JAAD Case Rep. 2019.
PMID: 31312705
Free PMC article.
No abstract available.
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, Schneider H, Guy A, Liu L, McGrath JA, Has C, Uitto J.
Vahidnezhad H, et al.
Matrix Biol. 2019 Oct;83:48-59. doi: 10.1016/j.matbio.2019.07.002. Epub 2019 Jul 11.
Matrix Biol. 2019.
PMID: 31302245
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