A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation-Reference-Cited by-同舟云学术

A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation

Published:2017-03-16 Issue:sup1 Volume:24 Page:97-98
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Matsumoto Sayaka¹,Ueda Mitsuharu¹,Yamashita Taro¹,Amano Tomoko¹,Misumi Yohei¹,Tasaki Masayoshi¹²,Masuda Teruaki¹,Mizukami Mayumi¹,Furuya Hirokazu³,Ando Yukio¹

Affiliation:

1. Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan,

2. Department of Morphological and Physiological Sciences, Graduate School of Health Sciences, Kumamoto University, Kumamoto, Japan, and

3. Department of Neurology, Kochi Medical School, Kochi University, Kochi, Japan

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2017.1286585

Reference5 articles.

1. Transthyretin-Related Familial Amyloidotic Polyneuropathy

2. The molecular biology and clinical features of amyloid neuropathy

3. A Novel Compound Heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with High Serum Transthyretin (TTR) and Retinol Binding Protein (RBP) Levels

4. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis

5. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis

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1. Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis;Journal of Human Genetics;2020-04-09