Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia-Reference-Cited by-同舟云学术

Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia

Published:2015-09-29 Issue:1 Volume:38 Page:17-26
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int. Jnl. Lab. Hem.

Author:

Vinciguerra M.¹,Passarello C.¹,Cassarà F.¹,Leto F.¹,Cannata M.¹,Calvaruso G.¹,Di Maggio R.¹,Renda D.¹,Maggio A.¹,Giambona A.¹

Affiliation:

1. Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs; Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies; Villa Sofia-Cervello Hospital; Palermo Italy

Funder

Piera and Franco Cutino Foundation O.N.L.U.S

Publisher

Wiley

Subject

Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine

Reference36 articles.

1. Beta-thalassemia;Rund;N Eng J Med,2005

2. Gene structure and the nature of mutation;Kazazian;Mead Johnson Symp Perinat Develop Med,1983

3. Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta globin gene;Wong;Blood,1989

4. Beta thalassaemia mutations in Mediterranean populations;Cao;Br J Haemtol,1989

5. The population genetics of the haemoglobinopathies;Flint;Baillieres Clin Hemat,1998

Cited by 7 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. When a synonymous mutation breaks the silence in a thalassaemia patient;British Journal of Haematology;2023-09-24

2. Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity;Balkan Journal of Medical Genetics;2022-12-01

3. Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene;Hemoglobin;2022-11-02

4. Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers;Mutation Research/Reviews in Mutation Research;2021-07

5. Compound heterozygosity of a silent beta‐thalassemia mutation at the 3′‐untranslated region ( HBB : c.*132 C>T) and beta‐zero thalassemia results in thalassemia intermedia;Pediatric Blood & Cancer;2020-01-13