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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: mershina ea. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796
[Radiology report: past, present and future].
Sinitsyn VE, Komarova MA, Mershina EA. Sinitsyn VE, et al. Among authors: mershina ea. Vestn Rentgenol Radiol. 2014 May-Jun;(3):35-40. Vestn Rentgenol Radiol. 2014. PMID: 25782296 Russian.
[Structured radiology reports].
Sinitsyn VE, Komarova MA, Mershina EA. Sinitsyn VE, et al. Among authors: mershina ea. Vestn Rentgenol Radiol. 2014 Nov-Dec;(6):47-52. Vestn Rentgenol Radiol. 2014. PMID: 25975133 Review. Russian.
53 results