Identification of a novelTTRGly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese
Author:
Publisher
Informa UK Limited
Subject
Internal Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/13506120701616532
Reference20 articles.
1. A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
2. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent
3. Transthyretin (prealbumin). The Human Gene Mutation Database website. Available from http://www.hgmd.cf.ac.uk/ac/index.php. Accessed 26 April 2007.
4. Transthyretin-Related Familial Amyloidotic Polyneuropathy
5. Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis
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2. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES);Journal of Laboratory Medicine;2021-11-04
3. Ocular manifestations in hereditary transthyretin Gly67Glu amyloidosis;Amyloid;2019-05-28
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5. Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds;Journal of the Peripheral Nervous System;2017-03
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