Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops-Reference-Cited by-同舟云学术

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

Published:2013-04-14 Issue:3 Volume:85 Page:293-295
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Beneteau C.¹,Thierry G.¹,Blesson S.²,Le Vaillant C.³,Picard V.⁴,Béné M.C.⁵,Eveillard M.⁵,Le Caignec C.¹⁶

Affiliation:

1. CHU Nantes, Service de Génétique Médicale Nantes France

2. Service de Génétique, CHU de Tours Tours France

3. Service d'Obstétrique et Médecine FœtaleCHU de Nantes Nantes France

4. AP‐HP et Université Paris Sud, Laboratoire d'HématologieCHU Bicêtre Le Kremlin Bicêtre France

5. Service d'Hématologie Biologique, CHU de Nantes

6. Inserm, UMR_S1087, Institut du Thorax Nantes France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12147

Reference5 articles.

1. First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

2. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

3. Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23‐q24;Grootenboer S;Blood,2000

4. Rapid flow cytometric test using eosin‐5‐maleimide for diagnosis of red blood cell membrane disorders;Tachavanich K;Southeast Asian J Trop Med Public Health,2009

5. A mechanosensitive ion channel regulating cell volume

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