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• W2057056265 abstract "Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report we describe two new mutations: (i) a founder mutation, which changes a conserved cysteine residue to tyrosine (C99Y) in a large inbred Tunisian pedigree, and (ii) a signal sequence mutation (W15R), which was homozygous in a German family and heterozygous in a Scottish patient. Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients." @default.
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• W2057056265 date "2003-03-01" @default.
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• W2057056265 title "Novel Mutations in the Gene Encoding Secreted Lymphocyte Antigen-6/Urokinase-type Plasminogen Activator Receptor-related Protein-1 (SLURP-1) and Description of Five Ancestral Haplotypes in Patients with Mal de Meleda" @default.
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• W2057056265 doi "https://doi.org/10.1046/j.1523-1747.2003.12062.x" @default.
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