Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing-Reference-Cited by-同舟云学术

Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing

Published:2017-01-02 Issue:1 Volume:24 Page:66-67
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Shibata Yuka¹,Matsushima Masaaki¹²^ORCID,Yabe Ichiro¹²^ORCID,Matsuda Koichiro³,Nagai Azusa²,Kano Takahiro²,Yamada Takahiro¹^ORCID,Sekijima Yoshiki⁴,Sasaki Hidenao¹²

Affiliation:

1. Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan;

2. Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;

3. Molecular Genetic Testing Group, Molecular Genetic Analysis Department, Molecular Pathology Esoteric Analysis Center, LSI Medience Corporation, Tokyo, Japan;

4. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan;

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2017.1307821

Reference8 articles.

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2. Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy

3. National Center for Biotechnology Information [Internet]. dbSNP Short Genetic Variations [cited 2016 Sept 29]. Available from: https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36204272.

4. Tohoku University Tohoku Medical Megabank Organization (ToMMo). INTEGRATIVE Japanese Genome Variation Database. 2015, [cited 2016 September 29]. Available from: https://ijgvd.megabank.tohoku.ac.jp/.

5. Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

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