کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5602555 1405392 2017 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation
چکیده انگلیسی
Thus, our data conclude that, similar to previously described ANK2 loss-of-function “point mutations”, large chromosomal translocations resulting in ANK2 haploinsufficiency are sufficient to cause the human cardiac ankyrin-B syndrome. The unexpected ascertainment of ANK2 dysfunction via the discovery of a chromosomal translocation in this family, the determination of the familial phenotype, as well as the complexities in formulating screening and treatment strategies are discussed.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Heart, Lung and Circulation - Volume 26, Issue 6, June 2017, Pages 612-618
نویسندگان
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