Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening-Reference-Cited by-同舟云学术

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Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening

Published:2006-01 Issue:2 Volume:30 Page:149-153
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Eng Barry,Patterson Margie,Walker Lynda,Hoppe Carolyn,Azimi Mahin,Lee Helen,Giordano Piero C.,Waye John S.

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.1080/03630260600642021

Reference14 articles.

1. Universal Newborn Screening for Hb H Disease in California

2. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia

3. Locus assignment of human a globin mutations by selective amplification and direct sequencing

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1. Hemoglobinopathy gone astray—three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing;Scandinavian Journal of Clinical and Laboratory Investigation;2021-11-18

2. mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (−C)] and Sciacca [α1 cod109 (−C)];Biomedicines;2021-10-04

3. Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A);Hemoglobin;2016-09-02

4. Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2:c.-59C>T], [HBA2:c.-81C>A] and [HBA2:c.-91G>A] reveal varying patterns of transcriptional and translational activities;Pathology;2014-01

5. Clinical Presentation and Molecular Identification of Four Uncommon Alpha Globin Variants in Thailand;Acta Haematologica;2013-09-26

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