Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
Abstract Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact prevalence is unknown. We estimated the predicted prevalence of Gitelman syndrome...
Enregistré dans:
Auteurs principaux: | Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu |
---|---|
Format: | article |
Langue: | EN |
Publié: |
Nature Portfolio
2021
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/5fc68a8e0cd1447396ba7d10c59cf739 |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
-
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases
par: Shinya Ishiko, et autres
Publié: (2020) -
Impact of the State of Emergency during the COVID-19 Pandemic in 2020 on Asthma Exacerbations among Children in Kobe City, Japan
par: Hiroshi Yamaguchi, et autres
Publié: (2021) -
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
par: Tomohiko Yamamura, et autres
Publié: (2020) -
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
par: Jing Wu, et autres
Publié: (2021) -
Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
par: Laura Nuñez-Gonzalez, et autres
Publié: (2021)