Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome-Reference-Cited by-同舟云学术

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Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

Published:2002-06-27 Issue:1 Volume:20 Page:78-78
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Syrén Marie-Louise,Tedeschi Silvana,Cesareo Laila,Bellantuono Rosa,Colussi Giacomo,Procaccio Mirella,Alì Anna,Domenici Raffaele,Malberti Fabio,Sprocati Monica,Sacco Michele,Miglietti Nunzia,Edefonti Alberto,Sereni Fabio,Casari Giorgio,Coviello Domenico A.,Bettinelli Alberto

Funder

Associazione per il Bambino Nefropatico, Milan, Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 53 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. New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients;Biochemical Genetics;2024-07-07

2. Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3;Scientific Reports;2023-08-03

3. Preterm birth leads to a decreased number of differentiated podocytes and accelerated podocyte differentiation;Frontiers in Cell and Developmental Biology;2023-03-02

4. R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome;Frontiers of Medicine;2022-11-12

5. Detecting pathogenic deep intronic variants in Gitelman syndrome;American Journal of Medical Genetics Part A;2022-07-03

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