Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family

Pyruvate Kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The disease has been studied in several ethnic groups. However, it is yet an unknown pathology in Tunisia. We report here, the phenotypic and molecular investig...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, Abbes Salem
Formato: Artigo
Idioma:Inglês
Publicado em: SpringerOpen 2016-07-01
Colecção:Egyptian Journal of Medical Human Genetics
Assuntos:
Pyruvate Kinase deficiency
Phenotypic and molecular investigation
Hemolytic anemia
Hydrops fetalis
PKLR mutation
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1110863015001111
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados