Article
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.
European journal of human genetics : EJHG - 1 Jan 2010
Lin Ming-Wei, Lee Ding-Dar, Liu Tze-Tze, Lin Yong-Feng, Chen Shang-Yi, Huang Chih-Cheng, Weng Hui-Ying, Liu Yu-Fen, Tanaka Akio, Arita Ken, Lai-Cheong Joey, Palisson Francis, Chang Yun-Ting, Wong Chu-Kwan, Matsuura Isao, McGrath John A, Tsai Shih-Feng
Abstract excerpt
Primary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superficial dermis. The disease is relatively common in Southeast Asia and South America. Autosomal dominant PCA has been mapped earlier to 5p13.1-q11.2 and two pathogenic missense mutations in the OSMR gene, which encodes the interleukin-6 family cytokine receptor oncostatin M receptor beta (OSMRbeta), were...
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