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Cali E., Lin S., Rocca C., Sahin Y., Al Shamsi A., El Chehadeh S., ...More
GENETICS IN MEDICINE, vol.24, no.10, pp.2194-2203, 2022 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
24
Issue:
10
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Publication Date:
2022
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Doi Number:
10.1016/j.gim.2022.07.013
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Journal Name:
GENETICS IN MEDICINE
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
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Page Numbers:
pp.2194-2203
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Keywords:
Human mediator complex, MED11, MEDopathies, INTELLECTUAL DISABILITY, MEDIATOR, MUTATION, COMPLEX
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Çukurova University Affiliated:
Yes
Abstract
Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.