Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

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...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987153/
https://ncbi.nlm.nih.gov/pubmed/19690585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.135
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