Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in thePKLRgene-Reference-Cited by-同舟云学术

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in thePKLRgene

Published:2017-01-30 Issue:2 Volume:39 Page:223-231
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int. Jnl. Lab. Hem.

Author:

Jaouani M.¹,Manco L.²³,Kalai M.¹,Chaouch L.¹,Douzi K.¹,Silva A.⁴,Macedo S.⁴,Darragi I.¹,Boudriga I.¹,Chaouachi D.¹,Fitouri Z.⁵,Van Wijk R.⁶,Ribeiro M. L.²,Abbes S.¹

Affiliation:

1. Laboratoire d'Hématologie Moléculaire et Cellulaire; Institut Pasteur de Tunis; Université de Tunis El Manar; Tunis Tunisia

2. Unidade de Hematlogia Molecular; Centro Hospitalar e Universitário de Coimbra (CHUC); Coimbra Portugal

3. Research Centre for Anthropology and Health (CIAS); Department of Life Sciences; Universidade de Coimbra; Coimbra Portugal

4. Instituto de Investigação e Inovação em Saúde; Universidade do Porto; Porto Portugal

5. Service de pédiatrie-urgences-consultations; Hôpital d'Enfants de Tunis; Tunis Tunisia

6. Laboratory for Red Blood Cell Research; Department of Clinical Chemistry and Hematology; University Medical Center Utrecht; Utrecht The Netherlands

Funder

The Tunisian Ministry of higher education in Scientific Research

Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijlh.12610/fullpdf

Reference24 articles.

1. Red cell pyruvate kinase deficiency: molecular and clinical aspects;Zanella;Br J Haematol,2005

2. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population;Beutler;Blood,2000