Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4690908
- author
- Broman, Marcus ; Kleinschnitz, Isabel ; Bach, Elisa J ; Rost, Simone ; Islander, Gunilla LU and Müller, Clemens R
- organization
- publishing date
- 2015
- 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
- pmid:25256590
- 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
- 2016-04-01 10:14:23
- date last changed
- 2022-04-04 03:47:45
@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}},
doi = {{10.1111/cge.12508}},
volume = {{88}},
year = {{2015}},
}