Article
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Human mutation - 1 Sept 2014
Rowczenio Dorota M, Noor Islam, Gillmore Julian D, Lachmann Helen J, Whelan Carol, Hawkins Philip N, Obici Laura, Westermark Per, Grateau Gilles, Wechalekar Ashutosh D
Abstract excerpt
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is associated with mutations in genes encoding eight different proteins, including transthyretin, apolipoprotein AI, apolipoprotein AII, lysozyme, fibrinogen A α-chain, cystatin C, gelsolin and beta-2-microglobulin. With support from the EU FP6 EURAMY project we have designed an online...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.