Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene

Author:

Ropero Paloma,M. Nieto Jorge,González Fernández Fernando-Ataúlfo,Villegas Ana,Benavente Celina

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference19 articles.

1. D.R. Higgs, The molecular basis of α-thalassemia, Cold Spring Harb. Perspect. Med. 2013;3(1):a011718. Published 2013 Jan 1. 10.1101/cshperspect.a011718.

2. Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia;Wajcman;Hemoglobin,2008

3. M.D. Bunn, H. Franklin, M.D. Forget, G. Bernard, Hemoglobin: Molecular, Genetic and Clinical Aspects. Hemoglobin: molecular, genetic and clinical aspects. Author: H Franklin Bunn; Bernard G Forget. Publisher: Philadelphia: W.B. Saunders Company, 1986.

4. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations;Giardine;Nucleic Acids Res.,2014

5. Kountouris P, Stephanou C, Bento C, Fanis P, Elion J, Ramesar RS, Zilfalil BA, Robinson HM, Traeger-Synodinos J, Human Variome Project Global Globin 2020 Challenge, Lederer CW, Kleanthous M. ITHANET: Information and database community portal for haemoglobinopathies. bioRxiv 209361; 10.1101/209361.

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