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Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred...

Hart, Patricia Suzanne; Pallos, Débora; Zhang, Yingze; Sanchez, Jane; Kavamura, Ines; Brunoni, Décio; Hart, Thomas Charles.

Made available in DSpace on 2019-09-12T16:53:44Z (GMT). No. of bitstreams: 0 Previous issue date: 2002; Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family with PLS, representing the first enzymatic analysis of a Brazilian kinship with PLS. This ...

Date: 2019   |   Origin: Oasisbr

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