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

Author:

Mouna Jaouani,Nadia Hamdi,Leila Chaouch,Miniar Kalai,Fethi Mellouli,Imen Darragi,Imen Boudriga,Dorra Chaouachi,Mohamed Bejaoui,Salem Abbes

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical)

Reference27 articles.

1. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia;Valentine;Trans Assoc Am Phys,1961

2. The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21;Satoh;Cytogenet Genome Res,1988

3. Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells;Kanno;Biochem Biophys Res Commun,1992

4. The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters;Noguchi;J Biol Chem,1987

5. The M1- and M2-type isozymes of rat pyruvate kinase are produced from the same gene by alternative RNA splicing;Noguchi;J Biol Chem,1986

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Novel mutations associated with pyruvate kinase deficiency in Brazil;Hematology, Transfusion and Cell Therapy;2018-01

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