Hb Filottrano [codon 120 (–A)]: A Novel Frameshift Mutation in Exon 3 of the β-Globin Gene Causing Dominantly Inherited β-Thalassemia Intermedia-Reference-Cited by-同舟云学术

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Hb Filottrano [codon 120 (–A)]: A Novel Frameshift Mutation in Exon 3 of the β-Globin Gene Causing Dominantly Inherited β-Thalassemia Intermedia

Published:2012-06 Issue:5 Volume:36 Page:480-484
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Amato Antonio,Cappabianca Maria Pia,Perri Maria,Zaghis Ivo,Mastropietro Fabrizio,Ponzini Donatella,Di Biagio Paola,Piscitelli Roberta

Publisher

Informa UK Limited

Subject

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

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2012.718309

Reference12 articles.

1. Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

2. Dominantly Inherited β-Thalassemia

3. IS IT DOMINANTLY INHERITED β THALASSAEMIA OR JUST A β-CHAIN VARIANT THAT IS HIGHLY UNSTABLE?

4. Hb Florida: A novel elongated C-terminal β-globin variant causing dominant β-thalassemia phenotype

Cited by 5 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. Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25;Hemoglobin;2023-03-04

2. Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT);Hemoglobin;2022-06-10

3. TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba;Frontiers in Molecular Biosciences;2019-10-01

4. Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2;Hemoglobin;2019-01-02

5. Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant;Hemoglobin;2014-01-16

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