Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay-Reference-Cited by-同舟云学术

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Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

Published:2020-11-05 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Wang Sai,Wang Yixiu,Wang Jinchao,Liu Zhiying,Zhang Ruixiao,Shi Xiaomeng,Han Yue,Guo Wencong,Bottillo Irene,Shao Leping

Funder

National Natural Science Foundation of China

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference38 articles.

1. Determination of the renal threshold for glucose excretion in familial renal Glucosuria.;Aires;Nephron,2015

2. The splicing code.;Baralle;Biosystems,2018

3. Targeting splicing in the treatment of Myelodysplastic Syndromes and other Myeloid Neoplasms.;Brierley;Curr. Hematol. Malig. Rep.,2016

4. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.;Calado;Kidney Int.,2006

5. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.;Calado;Nephrol. Dial Transpl.,2008

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1. Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay;Frontiers in Genetics;2024-05-22

2. Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay;Molecular Genetics & Genomic Medicine;2024-02

3. A novel homozygous splice‐site mutation of JK gene leads to Jk(a‐b‐) phenotype;Transfusion Medicine;2023-11-10

4. Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay;BMC Genomics;2023-07-19

5. Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome;Molecular Genetics & Genomic Medicine;2023-01-03

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