Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature-Reference-Cited by-同舟云学术

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Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature

Published:2023-03-26 Issue:4 Volume:12 Page:413-418
ISSN:2192-4449
Container-title:CEN Case Reports
language:en
Short-container-title:CEN Case Rep

Author:

Kamali Farnaz,Jamee Mahnaz,Sayer John A.,Sadeghi-Bojd Simin,Golchehre Zahra,Dehghanzad Reyhaneh,Keramatipour Mohammad,Mohkam Masoumeh

Publisher

Springer Science and Business Media LLC

Subject

General Earth and Planetary Sciences,General Environmental Science

Link

https://link.springer.com/content/pdf/10.1007/s13730-023-00785-8.pdf

Reference39 articles.

1. Ferioli S, Zierler S, Zaißerer J, Schredelseker J, Gudermann T, Chubanov V. TRPM6 and TRPM7 differentially contribute to the relief of heteromeric TRPM6/7 channels from inhibition by cytosolic Mg2+ and Mg· ATP. Sci Rep. 2017;7(1):1–19.

2. Valinsky WC, Touyz RM, Shrier A. Aldosterone and ion channels. Vitam Horm. 2019;109:105–31.

3. Kunert-Keil C, Bisping F, Krüger J, Brinkmeier H. Tissue-specific expression of TRP channel genes in the mouse and its variation in three different mouse strains. BMC Genom. 2006;7(1):1–14.

4. Farooqi AA, Javeed MK, Javed Z, Riaz AM, Mukhtar S, Minhaj S, et al. TRPM channels: same ballpark, different players, and different rules in immunogenetics. Immunogenetics. 2011;63(12):773–87.

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–23.

Cited by 1 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. A Rare Compound Heterozygous Mutation of TRPM6 Gene in Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Cause of Refractory Seizures in an Infant;Indian Pediatrics Case Reports;2024-07

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