Associated Papers
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
Wang T et al.
Bmc Medical Genomics, 2023
Biochemical Basis of Skin Disease Mal de Meleda: SLURP-1 Mutants Differently Affect Keratinocyte Proliferation and Apoptosis.
Shulepko MA et al.
The Journal of Investigative Dermatology, 2021
In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
Jafar Hussain HM et al.
Annals of Clinical and Laboratory Science, 2019
Japanese case of Mal de Meleda with a novel missense mutation of p.Thr52Ala in the second protruding finger of secreted Ly-6/uPAR-related protein 1.
Kunisada M et al.
The Journal of Dermatology, 2019
Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
Radiono S et al.
International Journal of Dermatology, 2017
Mal de Meleda: A Focused Review.
Perez C et al.
American Journal of Clinical Dermatology, 2016
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
Bchetnia M et al.
Biomed Research International, 2013
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
Nellen RG et al.
The British Journal of Dermatology, 2009
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