β-spectrinBari: a truncated β-chain responsible for dominant hereditary spherocytosis

We describe a β-spectrin variant, named β-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderately severe hemolytic anemia, splenomegaly, and spherocytes and acanthocytes in the blood smear. The occurrence of the...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Silverio Perrotta, Fulvio Della Ragione, Francesca Rossi, Rosa Anna Avvisati, Daniela Di Pinto, Giovanna De Mieri, Saverio Scianguetta, Silvia Mancusi, Luigia De Falco, Vito Marano, Achille Iolascon
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Ferrata Storti Foundation 2009-12-01
Цуврал:	Haematologica
Онлайн хандалт:	https://haematologica.org/article/view/5442
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!