Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1-Reference-Cited by-同舟云学术

Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1

Published:2022-03-01 Issue:2 Volume:42 Page:274-277
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Jang Ja-Hyun¹^ORCID,Yoon Sun Joo¹^ORCID,Kim Sun-Kyung¹^ORCID,Cho Jin Whan²³^ORCID,Kim Jong-Won¹^ORCID

Affiliation:

1. Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea

2. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

3. Neuroscience Center, Samsung Medical Center, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

http://pdf.medrang.co.kr/ALM/2022/042/ALM042-02-274.pdf

Reference17 articles.

1. Opal P and Ashizawa T. Spinocerebellar Ataxia Type 1. 1998 Oct 1 [Updated 2017 Jun 22]. In: Adam MP, Ardinger HH, Pagon RA. eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1184/.

2. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

3. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

4. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

5. Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). J Med Genet 1999;36:546-8.

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