Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A-Reference-Cited by-同舟云学术

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A

Published:2021-09-04 Issue:1 Volume:28 Page:117-124
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Jourdy Yohann¹²^ORCID,Bardel Claire³⁴⁵,Fretigny Mathilde¹,Diguet Flavie⁵,Rollat‐Farnier Pierre‐Antoine³⁵,Mathieu Marie‐Laure⁶,Labalme Audrey⁵,Sanlaville Damien⁵⁷,Edery Patrick⁵⁸,Vinciguerra Christine¹²,Schluth‐Bolard Caroline⁵⁷

Affiliation:

1. Hospices Civils de Lyon Groupe Hospitalier Est Service d'hématologie Biologique Bron France

2. UR 4609 Hémostase et thrombose Université Claude Bernard Lyon 1 Lyon France

3. Hospices Civils de Lyon Groupement Hospitalier Est Cellule bioinformatique de la plateforme de séquençage NGS Lyon France

4. Université de Lyon Université Lyon 1 CNRS Laboratoire de Biométrie et Biologie Evolutive UMR 5558 Villeurbanne France

5. Hospices Civils de Lyon Groupe Hospitalier Est Service de génétique Bron France

6. Hospices Civils de Lyon Groupe Hospitalier Est Service de Neuropédiatrie Bron France

7. Institut Neuromyogène Equipe Métabolisme énergétique et développement neuronal CNRS UMR 5310 INSERM U1217 Université Lyon 1 Lyon France

8. CRNL équipe GENDEV INSERM U1028 CNRS UMR5292 Université Claude Bernard Lyon 1 Lyon France

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14402

Reference41 articles.

1. Mechanisms underlying structural variant formation in genomic disorders

2. Mechanisms of change in gene copy number

3. A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

4. Definitions in Hemophilia

5. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

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