Mutations 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-phenoty...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Blood
Asıl Yazarlar: Glogowska, Edyta, Lezon-Geyda, Kimberly, Maksimova, Yelena, Schulz, Vincent P., Gallagher, Patrick G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society of Hematology 2015
Konular:
Plenary Paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4566808/
https://ncbi.nlm.nih.gov/pubmed/26198474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-07-657957
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller