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

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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Bibliographic Details
Main Authors: Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, Abbes Salem
Format: Article
Language:English
Published: SpringerOpen 2016-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Pyruvate Kinase deficiency
Phenotypic and molecular investigation
Hemolytic anemia
Hydrops fetalis
PKLR mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863015001111

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http://www.sciencedirect.com/science/article/pii/S1110863015001111

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