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Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. Marakhonov AV, et al. Among authors: boytsov sa. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796
The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: A substudy of the ESSE-RF.
Ershova AI, Meshkov AN, Bazhan SS, Storozhok MA, Efanov AY, Medvedeva IV, Indukaeva EV, Danilchenko YV, Kuzmina OK, Barbarash OL, Deev AD, Shalnova SA, Boytsov SA. Ershova AI, et al. Among authors: boytsov sa. PLoS One. 2017 Jul 18;12(7):e0181148. doi: 10.1371/journal.pone.0181148. eCollection 2017. PLoS One. 2017. PMID: 28719663 Free PMC article.
116 results