Identification of a novel <scp>ANK1</scp> mutation in hereditary spherocytosis co‐existing with <scp>BWS</scp>-Reference-Cited by-同舟云学术

Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS

Published:2022-02-25 Issue:4 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Zhang Qinghua¹^ORCID,Zhang Chuan¹,Wang Yupei¹,Hao Shengjv¹,Shi Jingyun²,Feng Xuan¹,Zheng Lei¹,Wang Xin¹,Xue Chen¹,Zhou Bingbo¹,Liu Furong¹,Zhao Fangping²,Li Xuetao³⁴,Deng Liangyuan³,Hou Jun³^ORCID,Meng Zhaoyan⁵

Affiliation:

1. Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital Lanzhou China

2. Department of Neonatal Intensive Care Unit Gansu Province Maternal and Child Health Care Hospital Lanzhou China

3. The Laboratory of Computational Medicine and Systems Biology, School of Medicine South China University of Technology Guangzhou China

4. Guangdong Lung Cancer Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, School of Medicine South China University of Technology Guangzhou China

5. Department of Obstetrics Gansu Province Maternal and Child Health Care Hospital Lanzhou China

Funder

Science and Technology Program of Gansu Province

Innovation and Entrepreneurship Talent Project of Lanzhou

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1903

Reference8 articles.

1. Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report

2. Old and new insights into the diagnosis of hereditary spherocytosis

3. Epidemiology of Rare Anaemias in Europe

4. Advances in understanding the pathogenesis of red cell membrane disorders

5. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine