Article
Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.
The Journal of investigative dermatology - 1 Jan 2003
Ward Kimberley Morine, Yerebakan Ozlem, Yilmaz Ertan, Celebi Jülide Tok
Abstract excerpt
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in...
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