Associated Papers
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
36578049 (PubMed )
Supplement: 13023_2022_2605_MOESM3_ESM.docx
Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.
Favre B et al.
Plos One, 2018
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy.
Zhang J et al.
Experimental and Therapeutic Medicine, 2016
A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.
Shinkuma S et al.
Acta Dermato-venereologica, 2013
Digenic inheritance in epidermolysis bullosa simplex.
Padalon-Brauch G et al.
The Journal of Investigative Dermatology, 2012
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