Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation
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چکیده
منابع مشابه
A Rare Presentation of Arterial Thrombosis after Venous Thrombosis in a Patient with Gastric Cancer
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متن کاملMutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration. In many patients, heterozygous mutations associated with delayed channel inactivation have been identified in PIEZO1. This report describes patients from 2 well-phenotyped HX kindreds, including from one of the first HX kindreds described, who lack predicted hetero...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2021
ISSN: 0361-8609,1096-8652
DOI: 10.1002/ajh.26245