A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia-Reference-Cited by-同舟云学术

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A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

Published:2022-08 Issue:8 Volume:24 Page:915-923
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Jama Mohamed^ORCID,Margraf Rebecca L.,Yu Ping,Reading N. Scott^ORCID,Bayrak-Toydemir Pinar

Funder

ARUP Laboratories

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference52 articles.

1. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996

2. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies;Bartolo;Am J Med Genet,1998

3. Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia;Galea;Ann Neurol,2016

4. Exonic deletions of FXN and early-onset Friedreich ataxia;Anheim;Arch Neurol,2012

5. Friedreich ataxia- pathogenesis and implications for therapies;Delatycki;Neurobiol Dis,2019

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. FXNgene methylation determines carrier status in Friedreich ataxia;Journal of Medical Genetics;2023-01-12

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