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Amyloid
The Journal of Protein Folding Disorders
Volume 24, 2017 - Issue 1
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Letter to the Editor

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

Yuka ShibataDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan;
,
Masaaki MatsushimaDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan; ;Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan; ORCID Iconhttp://orcid.org/0000-0001-6585-3686
ORCID Icon,
Ichiro YabeDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan; ;Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0002-1734-7997
ORCID Icon,
Koichiro MatsudaMolecular Genetic Testing Group, Molecular Genetic Analysis Department, Molecular Pathology Esoteric Analysis Center, LSI Medience Corporation, Tokyo, Japan;
,
Azusa NagaiDepartment of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;
,
Takahiro KanoDepartment of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;
,
Takahiro YamadaDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan; ORCID Iconhttp://orcid.org/0000-0002-5370-7873
ORCID Icon,
Yoshiki SekijimaDepartment of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan;
&
Hidenao SasakiDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan; ;Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;
show all
Pages 66-67 | Received 05 Dec 2016, Accepted 14 Mar 2017, Published online: 08 Apr 2017

References

  • Koike H, Sobue G. Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features. Expert Opin Med Diagn. 2010;4:323–331.
  • Tojo K, Sekijima Y, Machida K, et al. Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy. Muscle Nerve. 2008;37:796–803.
  • 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.
  • 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/.
  • Kawai Y, Mimori T, Kojima K, et al. Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. J Hum Genet. 2015;60:581–587.
  • Yamaguchi-Kabata Y, Nariai N, Kawai Y, et al. iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing. Hum Genome Var. 2015;2:15050.
  • Luigetti M, Conte A, Del Grande A, et al. TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci. 2013;34:1057–1063.
  • Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346:1786–1791.

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