A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects-Reference-Cited by-同舟云学术

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects

Published:2020-03-25 Issue:1 Volume:98 Page:64-68
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Cho Eun Hye¹^ORCID,Huh Hee Jae¹,Jeong Inyoung²,Lee Nam Yong¹,Koh Won‐Jung³,Park Hae‐Chul²,Ki Chang‐Seok⁴^ORCID

Affiliation:

1. Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea

2. Department of Biomedical Sciences College of Medicine, Korea University Ansan South Korea

3. Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea

4. GC Genome Yongin South Korea

Funder

National Research Foundation of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13742

Reference14 articles.

1. Primary Ciliary Dyskinesia

2. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

3. Advances in the Genetics of Primary Ciliary Dyskinesia

4. Mutation of serine/threonine protein kinase 36 ( STK36 ) causes primary ciliary dyskinesia with a central pair defect

5. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

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