Functional characterization of mGlu7 mutations identified in patients with developmental disability
نویسندگان
چکیده
منابع مشابه
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.
BACKGROUND A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically important as genetic DCM, usually presenting with advanced, life-threatening disease, may be preventable with early intervention in relatives known to carry the mutation. METHODS AND RESULTS We recently undertook bidirectional reseque...
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Telomerase RNA gene (hTERC) mutations have been identified in a subset of patients with bone-marrow failure syndromes (BMFS). While most of the mutations were found in the coding region of hTERC, some rare disease-associated mutations as well as polymorphic sequence changes were found in the promoter proximal region of the gene, including the -99C/G sequence change that was thought to modulate ...
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ژورنال
عنوان ژورنال: IBRO Reports
سال: 2019
ISSN: 2451-8301
DOI: 10.1016/j.ibror.2019.07.1192