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Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency

  • Published:2017-05 Issue:5 Volume:27 Page:492-499
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Levano Soledad,Gonzalez Asensio,Singer Martine,Demougin Philippe,Rüffert Henrik,Urwyler Albert,Girard Thierry

Funder

Department of Anesthesia, University Hospital Basel, Switzerland

Swiss National Science Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference46 articles.

1. Malignant hyperthermia: current strategies for effective diagnosis and management;Wappler;Expert Opin Orphan Drugs,2014

2. European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility;Hopkins;Br J Anaesth,2015

3. Malignant hyperthermia: a review;Rosenberg;Orphanet J Rare Dis,2015

4. Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences;Soliday;AANA J,2010

5. Rapid and accurate detection of atypical- and Kalow-variants in the butyrylcholinesterase gene using denaturing high-performance liquid chromatography;Levano;Anesth Analg,2008

Cited by 4 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. Perioperative genetic screening: entering a new era;British Journal of Anaesthesia;2020-12

2. PharmGKB summary: very important pharmacogene information for CACNA1S;Pharmacogenetics and Genomics;2020-02

3. Maligne Hyperthermie: Diagnostik konkret;AINS - Anästhesiologie · Intensivmedizin · Notfallmedizin · Schmerztherapie;2019-09

4. Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants;Pharmacogenomics;2019-09
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