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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.
Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3.
Hum Mutat. 2019.
PMID: 30908796
Transforming growth factor beta 1 levels in the blood of pediatric liver recipients: Clinical and biochemical correlations.
Kurabekova R, Tsirulnikova O, Pashkova I, Gichkun O, Mozheyko N, Gautier S, Shevchenko O.
Kurabekova R, et al.
Pediatr Transplant. 2020 May;24(3):e13693. doi: 10.1111/petr.13693. Epub 2020 Mar 20.
Pediatr Transplant. 2020.
PMID: 32196884
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