Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example-Reference-Cited by-同舟云学术

Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example

Published:2018-11-02 Issue:5-6 Volume:42 Page:287-293
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Wajcman Henri¹,de Brevern Alexandre G.²³⁴,Riou Jean⁵,Latouche Celine⁵,Marden Michael C.¹⁴,Pissard Serge¹⁵⁴

Affiliation:

1. Institut National de la Sante et de la Recherche Médicale (INSERM) U 955 eq 2, Institut Mondor de Recherche Biomoléculaire (IMRB), Créteil, France;

2. Biologie Integree du Globule Rouge Unité Mixte de Recherche (UMR)-S1134, INSERM, Université Paris Diderot, Sorbonne, Paris Cite, Université de la Réunion, Université des Antilles, Paris, France;

3. Institut National de la Transfusion Sanguine (INTS), Paris, France;

4. Laboratoire d’Excellence GR-Ex, Créteil, France

5. Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Henri Mondor, Créteil, France;

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1556683

Reference26 articles.

1. Die Konstitution des normalen adulten Humanhämoglobins

2. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

3. Haemoglobin J-Biskra: a new mildly unstable α1 gene variant with a deletion of eight residues (α50-57, α51-58 or α52-59) including the distal histidine

4. ABNORMAL HEMOGLOBINS: LABORATORY METHODS

5. Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions

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