Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia-Reference-Cited by-同舟云学术

Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia

Published:2023-06 Issue:6 Volume:68 Page:702-705
ISSN:1044-1549
Container-title:American Journal of Respiratory Cell and Molecular Biology
language:en
Short-container-title:Am J Respir Cell Mol Biol

Author:

Hijikata Minako¹^ORCID,Morimoto Kozo¹^ORCID,Takekoshi Daisuke²^ORCID,Shimoda Masafumi¹^ORCID,Wakabayashi Keiko¹,Miyabayashi Akiko¹,Guo Tz-Chun¹,Yamada Hiroyuki¹^ORCID,Keicho Naoto¹^ORCID

Affiliation:

1. Japan Anti‐Tuberculosis AssociationTokyo, Japan

2. Jikei University School of MedicineTokyo, Japan

Funder

Japan Society for the Promotion of Science

the Ministry of Health, Labour and Welfare of Japan awarded to the Study Group on Diffuse Pulmonary Disorders, Scientific Research/Research on Intractable Diseases

Publisher

American Thoracic Society

Subject

Cell Biology,Clinical Biochemistry,Pulmonary and Respiratory Medicine,Molecular Biology

Link

https://www.atsjournals.org/doi/pdf/10.1165/rcmb.2022-0394LE

Reference15 articles.

1. Motile ciliopathies

2. Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

3. A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia

4. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

5. Recurring large deletion in DRC1 ( CCDC164 ) identified as causing primary ciliary dyskinesia in two Asian patients

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