Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families

BACKGROUND: About half of malignant hyperthermia (MH) cases are associated with skeletal muscle ryanodine receptor 1 (RYR1) and calcium channel, voltage-dependent, L type, α1S subunit (CACNA1S) gene mutations, leaving many with an unknown cause. We chose to apply a sequencing approach to uncover cau...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Kim, Jerry H., Jarvik, Gail P., Browning, Brian L., Rajagopalan, Ramakrishnan, Gordon, Adam S., Rieder, Mark J., Robertson, Peggy D., Nickerson, Deborah A., Fisher, Nickla A., Hopkins, Philip M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4115638/
https://ncbi.nlm.nih.gov/pubmed/24013571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ALN.0b013e3182a8a998
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk