Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference31 articles.
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3. A human keratin 14' “knockout”: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein;Chan;Genes Dev,1994
4. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex;Chan;Proc Natl Acad Sci USA,1993
5. A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: ΔE375;Chen;Hum Mol Genet,1993
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4. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5;Case Reports in Pediatrics;2020-04-17
5. Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis;Pediatric Dermatology;2018-12-04
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