A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review

• Asıl Yazarlar: Jie Li (Yazar), Xiaozi Wang (Yazar), Na Zheng (Yazar), Xiaoning Wang (Yazar), Yan Liu (Yazar), Liying Xue (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2022-12-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS...