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Otozomal Resesif Limb-Girdle Kas Distrofisi Tanısı Alan Ailelerde Yeni Gen Araştırılması
(Sağlık Bilimleri Enstitüsü, 2014)
Limb-girdle muscular dystrophies (LGMD) are a clinically and genetically heterogeneous group of hereditary muscle disorders characterized by symmetric, proximal and progressive muscular weakness. In this thesis, four ...
Investigation of the Role of LAP1B in Transcriptional Regulation of Muscle Cells
(Sağlık Bilimleri Enstitüsü, 2021-01-20)
The loss-of-function of
the inner nuclear membrane protein LAP1B (lamina-associated polypeptide 1, isoform
B) causes muscular dystrophy and cardiomyopathy in humans. The function of LAP1B
in muscle is still unknown. The ...