Clinical and biological features in
Anemia, Hemolytic, Congenital
/ complications
Channelopathies
/ genetics
Edema
/ etiology
Family
Female
Hemolysis
Humans
Hydrops Fetalis
/ genetics
Intermediate-Conductance Calcium-Activated Potassium Channels
/ genetics
Ion Channels
/ genetics
Iron Overload
Male
Mutation
Mutation, Missense
Pregnancy
Retrospective Studies
Splenectomy
/ adverse effects
Thrombosis
Journal
Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
04
09
2018
accepted:
15
01
2019
pubmed:
19
1
2019
medline:
24
7
2020
entrez:
19
1
2019
Statut:
ppublish
Résumé
We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis. Twelve patients from six families carried a
Identifiants
pubmed: 30655378
pii: haematol.2018.205328
doi: 10.3324/haematol.2018.205328
pmc: PMC6669138
doi:
Substances chimiques
Intermediate-Conductance Calcium-Activated Potassium Channels
0
Ion Channels
0
KCNN4 protein, human
0
PIEZO1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1554-1564Informations de copyright
Copyright© 2019 Ferrata Storti Foundation.
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