PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis

被引：16
作者：
Andolfo, Immacolata [1 ,2 ]
Manna, Francesco [1 ,2 ]
De Rosa, Gianluca [1 ,2 ]
Rosato, Barbara Eleni [1 ,2 ]
Gambale, Antonella [1 ,2 ]
Tomaiuolo, Giovanna [2 ,3 ]
Carciati, Antonio [2 ,3 ]
Marra, Roberta [1 ,2 ]
De Franceschi, Lucia [4 ]
Iolascon, Achille [1 ,2 ]
Russo, Roberta [1 ,2 ]
机构：
[1] Federico II Univ Naples, Dept Mol Med & Med Biotechnol, Naples, Italy
[2] CEINGE, Biotecnol Avanzate, Naples, Italy
[3] Federico II Univ Naples, Dipartimento Ingn Chim Mat & Prod Ind, Naples, Italy
[4] Univ Verona, Dept Med, Verona, Italy
来源：
HAEMATOLOGICA | 2018年 / 103卷 / 03期
关键词：
GARDOS CHANNEL; XEROCYTOSIS; MUTATIONS; PIEZO1; MECHANISMS; ANEMIA;
D O I：
10.3324/haematol.2017.180687
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：E94 / E97
页数：4
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