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  • Broman, Marcus, et al. (author)
  • Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.
  • 2015
  • In: Clinical Genetics. - : Wiley. - 0009-9163. ; 88:4, s. 381-385
  • Journal article (peer-reviewed)abstract
    • Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes.
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Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Broman, Marcus (1)
Islander, Gunilla (1)
Kleinschnitz, Isabel (1)
Bach, Elisa J (1)
Rost, Simone (1)
Müller, Clemens R (1)
University
Lund University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
2015 (1)

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