Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia
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DOI: 10.1007/s00018-017-2704-9
Abstract: Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We… read more here.
Keywords: function tmem16e; tmem16e ano5; tmem16e; function ... See more keywords