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...

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Main Authors: Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, Abbes Salem
格式: Artigo
語言:Inglês
出版: SpringerOpen 2016-07-01
叢編:Egyptian Journal of Medical Human Genetics
主題:
Pyruvate Kinase deficiency
Phenotypic and molecular investigation
Hemolytic anemia
Hydrops fetalis
PKLR mutation
在線閱讀:http://www.sciencedirect.com/science/article/pii/S1110863015001111
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