Associated Papers
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
Akbar A et al.
Bmc Medical Genetics, 2019
31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.
Has C et al.
The British Journal of Dermatology, 2015
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Hershkovitz D et al.
Clinical and Experimental Dermatology, 2009
Diseases of epidermal keratins and their linker proteins.
Uitto J et al.
Experimental Cell Research, 2007
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
Barber AG et al.
Journal of Dermatological Science, 2007
Targetting of desmoglein 1 in inherited and acquired skin diseases.
Whittock NV et al.
Clinical and Experimental Dermatology, 2003
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Hunt DM et al.
European Journal of Human Genetics : Ejhg, 2001
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