PMC Links for Nucleotide (Select 1677530350) - PMC

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Items: 4

Select item 65006911.

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

Alberto Zullo, Giuseppa Perrotta, Rossana D'Angelo, Lucia Ruggiero, Elvira Gravino, Luigi Del Vecchio, Lucio Santoro, Francesco Salvatore, Antonella Carsana

Biomed Res Int. 2019; 2019: 7638946. Published online 2019 Apr 21. doi: 10.1155/2019/7638946

PMCID:: PMC6500691

Abstract Article PDF–1.2M

Select item 51688242.

DNA Hypomethylation in Intragenic and Intergenic Enhancer Chromatin of Muscle-Specific Genes Usually Correlates with their Expression

Kenneth C. Ehrlich, Heather L. Paterson, Michelle Lacey, Melanie Ehrlich

Yale J Biol Med. 2016 Dec; 89(4): 441–455. Published online 2016 Dec 23.

PMCID:: PMC5168824

Abstract Article PDF–13M

Select item 43032173.

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

Nyamkhishig Sambuughin, Elena Zvaritch, Natasha Kraeva, Olga Sizova, Erica Sivak, Kelley Dickson, Margaret Weglinski, John Capacchione, Sheila Muldoon, Sheila Riazi, Susan Hamilton, Barbara Brandom, David H MacLennan

Mol Genet Genomic Med. 2014 Nov; 2(6): 472–483. Published online 2014 Jun 6. doi: 10.1002/mgg3.91

PMCID:: PMC4303217

Abstract Article PDF–1.7M

Select item 41244744.

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report

Thais Cuperman, Stephanie A Fernandes, Naila CV Lourenço, Lydia U Yamamoto, Helga CA Silva, Rita CM Pavanello, Guilherme L Yamamoto, Mayana Zatz, Acary SB Oliveira, Mariz Vainzof

BMC Res Notes. 2014; 7: 487. Published online 2014 Aug 1. doi: 10.1186/1756-0500-7-487