A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred-Reference-Cited by-同舟云学术

A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred

Published:2014-11-28 Issue:1 Volume:22 Page:26-30
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Jimenez-Zepeda Victor H.,Bahlis Nizar J.,Gilbertson Janet,Rendell Nigel,Porcari Riccardo,Lachmann Helen J.,Gillmore Julian D.,Hawkins Philip N.,Rowczenio Dorota M.

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

http://www.tandfonline.com/doi/pdf/10.3109/13506129.2014.987377

Reference34 articles.

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4. Transthyretin amyloidosis

5. Amyloidogenicity and Clinical Phenotype Associated with Five Novel Mutations in Apolipoprotein A-I

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4. Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds;Journal of the Peripheral Nervous System;2017-03