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Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.

Broman, Marcus; Kleinschnitz, Isabel; Bach, Elisa J; Rost, Simone; Islander, Gunilla LU and Müller, Clemens R (2015) In Clinical Genetics 88(4). p.381-385
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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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Clinical Genetics
volume
88
issue
4
pages
381 - 385
publisher
Wiley-Blackwell
external identifiers
  • pmid:25256590
  • wos:000362681500016
  • scopus:84941621655
ISSN
0009-9163
DOI
10.1111/cge.12508
language
English
LU publication?
yes
id
806e2098-ca70-47e9-a7c2-f6237abdf4df (old id 4690908)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25256590?dopt=Abstract
date added to LUP
2014-10-08 16:20:53
date last changed
2017-10-01 03:10:40
@article{806e2098-ca70-47e9-a7c2-f6237abdf4df,
  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.},
  author       = {Broman, Marcus and Kleinschnitz, Isabel and Bach, Elisa J and Rost, Simone and Islander, Gunilla and Müller, Clemens R},
  issn         = {0009-9163},
  language     = {eng},
  number       = {4},
  pages        = {381--385},
  publisher    = {Wiley-Blackwell},
  series       = {Clinical Genetics},
  title        = {Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.},
  url          = {http://dx.doi.org/10.1111/cge.12508},
  volume       = {88},
  year         = {2015},
}