Structural and Functional Insights on an Uncharacterized Aγ-Globin-Gene Polymorphism Present in Four β0-Thalassemia Families with High Fetal Hemoglobin Levels-Reference-Cited by-同舟云学术

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Structural and Functional Insights on an Uncharacterized Aγ-Globin-Gene Polymorphism Present in Four β0-Thalassemia Families with High Fetal Hemoglobin Levels

Published:2016-02-20 Issue:2 Volume:20 Page:161-173
ISSN:1177-1062
Container-title:Molecular Diagnosis & Therapy
language:en
Short-container-title:Mol Diagn Ther

Author:

Bianchi Nicoletta,Cosenza Lucia Carmela,Lampronti Ilaria,Finotti Alessia,Breveglieri Giulia,Zuccato Cristina,Fabbri Enrica,Marzaro Giovanni,Chilin Adriana,De Angelis Gioia,Borgatti Monica,Gallucci Cristiano,Alfieri Cecilia,Ribersani Michela,Isgrò Antonella,Marziali Marco,Gaziev Javid,Morrone Aldo,Sodani Pietro,Lucarelli Guido,Gambari Roberto,Paciaroni Katia

Funder

Fondazione Telethon (IT)

Seventh Framework Programme (BE)

Ministero della Salute (IT)

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s40291-016-0187-2.pdf

Reference48 articles.

1. Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12:61–76. doi: 10.1097/GIM.0b013e3181cd68ed .

2. Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42 (Database issue):D1063–D1069. doi: 10.1093/nar/gkt911 .

3. Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev. 2003;17:43–53.

4. Weatherall DJ. Pathophysiology of thalassaemia. Bailliere’s Clin Haematol. 1998;11:127–46.

5. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2:245–55.

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