Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the <scp><i>ANK1</i></scp> gene: Report of two cases of hereditary spherocytosis-Reference-Cited by-同舟云学术

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis

Published:2023-03-16 Issue:4 Volume:201 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Lunati‐Rozie Ariane¹²,Janin Alexandre³⁴,Faubert Emmanuelle¹²,Nony Severine⁴,Renoux Céline⁴⁵^ORCID,Carcao Manuel D.⁶^ORCID,Fanen Pascale¹²,Funalot Benoît¹²,Mansour‐Hendili Lamisse¹⁷,Joly Philippe⁴⁵⁸^ORCID

Affiliation:

1. Département de Biochimie‐Biologie Moléculaire, Pharmacologie, Génétique Médicale, AP‐HP Hôpitaux Universitaires Henri Mondor Créteil France

2. Université Paris‐Est Créteil INSERM, IMRB Créteil France

3. Institut NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle CNRS UMR 5261 ‐INSERM U1315 ‐ Université de Lyon ‐ Université Claude Bernard Lyon 1 Lyon France

4. Service de Biochimie et de Biologie Moléculaire, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon Bron France

5. Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe "Biologie vasculaire et du globule rouge" Université Claude Bernard Lyon 1, COMUE Lyon France

6. Paediatric Haematology and Oncology Hospital for Sick Children Toronto Ontario Canada

7. IMRB Equipe Pirenne, Laboratoire d'excellence LABEX GRex Université Paris‐Est Créteil Créteil France

8. Laboratoire d'Excellence du Globule Rouge, Labex GR‐Ex Université Paris, PRES Sorbonne Paris France

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18760

Reference6 articles.

1. Red cell membrane disorders

2. Exome sequencing for diagnosis of congenital hemolytic anemia

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Genotype–phenotype correlation in children with hereditary spherocytosis

5. Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

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