Detecting pathogenic deep intronic variants in <scp>Gitelman</scp> syndrome-Reference-Cited by-同舟云学术

Detecting pathogenic deep intronic variants in Gitelman syndrome

Published:2022-07-03 Issue:9 Volume:188 Page:2576-2583
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Rossanti Rini¹²,Horinouchi Tomoko¹^ORCID,Sakakibara Nana¹,Yamamura Tomohiko¹,Nagano China¹,Ishiko Shinya¹,Aoto Yuya¹,Kondo Atsushi¹,Nagai Sadayuki¹,Awano Hiroyuki¹,Nagase Hiroaki¹,Matsuo Masafumi³,Iijima Kazumoto⁴⁵,Nozu Kandai¹^ORCID

Affiliation:

1. Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan

2. Department of Child Health, Nephrology Division, Dr. Hasan Sadikin General Hospital/Faculty of Medicine Universitas Padjadjaran Bandung Indonesia

3. Research Center for Locomotion Biology Kobe Gakuin University Kobe Hyogo Japan

4. Hyogo Prefectural Kobe Children's Hospital Kobe Hyogo Japan

5. Department of Advanced Pediatric Medicine Kobe University Graduate School of Medicine Kobe Hyogo Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62885

Reference36 articles.

1. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

2. Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life

3. Enemy Action in the Distal Convoluted Tubule

4. Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

5. Fujimura J. Nozu K. Yamamura T. Minamikawa S. Nakanishi K. Horinouchi T. Nagano C. Sakakibara N. Nakanishi K. Shima Y. Miyako K. Nozu Y. Morisada N. Nagase H. Ninchoji T. Kaito H. & Iijima K. (2019).Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.Kidney International Reports 4(1) 119–125.https://doi.org/10.1016/j.ekir.2018.09.015

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1. Genotype–phenotype correlations in children with Gitelman syndrome;Clinical and Experimental Nephrology;2024-03-13

2. Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome;International Journal of General Medicine;2023-05

3. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome;Journal of the American Society of Nephrology;2022-11-09