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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2010
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker