Browsing Doctoral Theses / Doktorsavhandlingar Institutionen för biomedicin by Subject "heart disease"
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Study the role of patient-specific mutations by genetic disease modeling
(2019-03-01)Many genetic diseases inherited in a dominant fashion have a complex pathological pattern. TOR1A mediated Dystonia-1 (DYT1) is an example of incomplete penetrance, affecting only a third of the carriers. DYT1 is an early-onset ...