Associated Papers
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Shah K et al.
International Journal of Dermatology, 2017
Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex.
Zeng K et al.
International Journal of Dermatology, 2014
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
Yiasemides E et al.
Clinical and Experimental Dermatology, 2008
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J et al.
The Journal of Investigative Dermatology, 2008
Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.
Has C et al.
The Journal of Investigative Dermatology, 2006
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
Gu LH et al.
The Journal of Dermatology, 2002
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
Batta K et al.
The British Journal of Dermatology, 2000
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