Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area-Reference-Cited by-同舟云学术

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Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

Published:2021-07-09 Issue:8 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Qiao Lingyan¹^ORCID,Ge Juan¹,Li Cheng¹,Liu Yusheng²,Hu Conghui¹,Hu Sicui¹^ORCID,Li Wenjie³,Li Tang¹

Affiliation:

1. Department of Pediatric Endocrinology and Genetic Metabolic Diseases Qingdao Women and Children’s Hospital Qingdao China

2. Department of Pediatric Surgery The Affiliated Hospital of Qingdao University Qingdao China

3. Neonatal Screening Laboratory Qingdao Women and Children’s Hospital Qingdao China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1741

Reference25 articles.

1. ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

2. Wilson's disease

3. A genetic study of Wilson’s disease in the United Kingdom

4. High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

5. Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic and genetic characterization of children with Wilson Disease from Northeast China;BMC Pediatrics;2024-09-12

2. Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais;BMC Medical Genomics;2024-01-02

3. Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive Mendelian disorders using exome sequencing data in 1,642 Thais;2023-06-20

4. Phenotypic and Genetic Characterization of children with Wilson Disease from Northeast China;2023-05-19

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