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luma chequen/cardiomyopathies

Veza se sprema u međuspremnik
ČlanciKliničkim ispitivanjimaPatenti
2 rezultati
In a series of recent reports, mutations in the gene encoding a protein called LUMA (or TMEM43), widely speculated to be a tetraspan transmembrane protein of the nuclear envelope, have been associated with a specific subtype of cardiomyopathy (arrhythmogenic cardiomyopathies) and cases of sudden

Luma is not essential for murine cardiac development and function.

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UNASSIGNED Luma is a recently discovered, evolutionarily conserved protein expressed in mammalian heart, which is associated with the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex. The LINC complex structurally integrates the nucleus and the cytoplasm and plays a critical role in
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