Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex1 (original) (raw)
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
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Human Mutation, 2003
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Journal of Investigative Dermatology, 1999
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Keratin 14 Point Mutations at Codon 119 of Helix 1A Resulting in Different Epidermolysis Bullosa Simplex Phenotypes
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Journal of Investigative Dermatology, 2001
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Linkage of epidermolysis bullosa simplex to keratin gene loci
Kevin Mckenna
Journal of Medical Genetics, 1992
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KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family
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Attila Horváth
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Clinical and Experimental Dermatology, 2008
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Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex
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University of Groningen Epidermolysis bullosa simplex
Maria Caroline
2010
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Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene
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A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Yasuo Kitajima
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Ellen Wijsman
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Pierre Coulombe
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Journal of Dermatological Science, 2013
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Expression of a Truncated Keratin 5 May Contribute to Severe Palmar-Plantar Hyperkeratosis in Epidermolysis Bullosa Simplex Patients
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Journal of Investigative Dermatology, 2001
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Daniel Hohl
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A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5
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A Novel Deletion Mutation in Keratin 5 Causing the Removal of 5 Amino Acids and Elevated Mutant mRNA Levels in Dowling–Meara Epidermolysis Bullosa Simplex
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