Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family-Reference-Cited by-同舟云学术

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Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family

Published:2019-01-02 Issue:1 Volume:43 Page:4-6
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Curcio Cristina¹,Giannone Valentina¹,Benzoni Elena¹,Cesaretti Claudia²,Ivaldi Giovanni³

Affiliation:

1. Laboratorio Genetica, Fondazione (Istituto di Ricovero e Cura a Carattere Scientifico-IRCCS) Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia;

2. Genetica Medica, Departimento Donna-Bambino-Neonato, IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia;

3. Laboratorio di Genetica Umana e Microcitemia, Ospedale Galliera, Genova, Italia

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2019.1566138

Reference16 articles.

1. Molecular Characterization of Hb Hamilton Hill (HBA2: c.388delC), a NovelHBA2Variant Generating a Premature Termination Codon and TruncatedHBA2Chain

2. Heterogeneity of Hemoglobin H Disease in Childhood

3. The Molecular Basis of -Thalassemia

4. Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

5. Congenital Heinz-Body Anaemia.

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