Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants

被引：2

作者：

Marcello, Anna Paola ^{[1
,4
]}

Visconti, Camilla ^{[2
,3
]}

Vercellati, Cristina ^{[1
]}

Zaninoni, Anna ^{[1
]}

Bianchi, Paola ^{[1
]}

Barcellini, Wilma ^{[1
]}

Aiuti, Alessandro ^{[2
]}

Fermo, Elisa ^{[1
]}

Ferrua, Francesca ^{[2
]}

机构：

[1] Fdn IRCCS CaGranda Osped Maggiore Policlin, Hematol Unit, Pathophysiol Anemias Unit, Milan, Italy

[2] IRCCS San Raffaele Sci Inst, San Raffaele Telethon Inst Gene Therapy SR Tiget, Pediat Immunohematol & Bone Marrow Transplantat Un, Milan, Italy

[3] Univ Vita Salute San Raffaele, Dept Pediat, Milan, Italy

[4] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Via F Sforza, 35, I-20122 Milan, Italy

来源：

PEDIATRIC BLOOD & CANCER | 2023年 / 70卷 / 09期

关键词：

RED-CELLS; BAND-3; SPHEROCYTOSIS; MUTATIONS; TRANSPORT; EXCHANGER; FEATURES; AE1;

D O I：

10.1002/pbc.30344

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页数：4

共 34 条

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[25] Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
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[26] Rare variants in SLC6A4 cause susceptibility to major depressive disorder with suicidal ideation in Han Chinese adolescents and young adults
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Wang, Suya
Kuang, Li
GENE, 2020, 726
[27] Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
Sarah Grosche
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Robert Karlsson
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Manuel Lutz
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Nature Communications, 12
[28] Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
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Marenholz, Ingo
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[29] Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering
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[30] Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss
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