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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

✍ Scribed by Chen, Ying-Zhang; Friedman, Jennifer R.; Chen, Dong-Hui; Chan, Guy C.-K.; Bloss, Cinnamon S.; Hisama, Fuki M.; Topol, Sarah E.; Carson, Andrew R.; Pham, Phillip H.; Bonkowski, Emily S.; Scott, Erick R.; Lee, Janel K.; Zhang, Guangfa; Oliveira, Glenn; Xu, Jian; Scott-Van Zeeland, Ashley A.; Chen, Qi; Levy, Samuel; Topol, Eric J.; Storm, Daniel; Swanson, Phillip D.; Bird, Thomas D.; Schork, Nicholas J.; Raskind, Wendy H.; Torkamani, Ali

Book ID
126888658
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
224 KB
Volume
75
Category
Article
ISSN
0364-5134

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Functional analysis of LDLR promoter and
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Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5 0 UTR. Here, we analyse the functionality of six newly ident