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Year | Number of Results |
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2010 | 1 |
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Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.
J Biol Chem. 2002 Jun 28;277(26):23670-4. doi: 10.1074/jbc.M200974200. Epub 2002 Apr 24.
J Biol Chem. 2002.
PMID: 11973334
Free article.
Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.
Ołdak M, Szczecińska W, Przybylska D, Maksym RB, Podgórska M, Woźniak K, Płoski R, Kowalewski C.
Ołdak M, et al.
J Dermatol Sci. 2011 Jan;61(1):64-7. doi: 10.1016/j.jdermsci.2010.11.002. Epub 2010 Nov 17.
J Dermatol Sci. 2011.
PMID: 21144712
No abstract available.
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"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex.
González-Cantero Á, Sánchez-Moya AI, Pérez-Hortet C, Martínez-Lorenzo E, Gómez-Dorado B, Schoendorff-Ortega C.
González-Cantero Á, et al.
Pediatr Dermatol. 2017 Jul;34(4):e205-e206. doi: 10.1111/pde.13146. Epub 2017 Apr 19.
Pediatr Dermatol. 2017.
PMID: 28425111
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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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