Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing-Reference-Cited by-同舟云学术

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Published:2020-03-11 Issue:5 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lin Pei‐Chin¹²³^ORCID,Cheng Chao‐Neng⁴^ORCID,Huang Hsi‐Yuan⁵⁶^ORCID,Tseng Yu‐Hsin³^ORCID,Chang Ya‐Sian⁵⁶⁷⁸^ORCID,Lin Chien‐Yu⁹^ORCID,Chang Jan‐Gowth⁵⁶⁷⁸¹⁰^ORCID

Affiliation:

1. Division of Hematology and Oncology Department of Pediatrics Kaohsiung Medical University Hospital Kaohsiung Taiwan

2. Department of Pediatrics School of Medicine College of Medicine Kaohsiung Medical University Kaohsiung Taiwan

3. Department of Pediatrics Kaohsiung Medical University HospitalKaohsiung Medical University Kaohsiung Taiwan

4. Division of Hematology and Oncology Department of Pediatrics National Cheng Kung University Hospital Tainan Taiwan

5. Center for Precision Medicine China Medical University Hospital Taichung Taiwan

6. Department of Laboratory Medicine China Medical University HospitalChina Medical University Taichung Taiwan

7. Epigenome Research Center China Medical University Hospital Taichung Taiwan

8. School of Medicine China Medical University Taichung Taiwan

9. Graduate Institute of Clinical Medical Science, School of Medicine China Medical University Taichung Taiwan

10. Department of Bioinformatics and Medical Engineering Asia University Taichung Taiwan

Funder

Ministry of Science and Technology

Kaohsiung Medical University

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1220

Reference24 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation

2. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation

3. A life-threatening episode of treatment-resistant haemolysis in a pregnant patient with dyserythropoietic anaemia (CDA) type I

4. Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

5. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia