A novel duplication mutation of SLC2A1 gene causing glucose transporter 1 deficiency syndrome-Reference-Cited by-同舟云学术

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A novel duplication mutation of SLC2A1 gene causing glucose transporter 1 deficiency syndrome

Published:2024-11 Issue: Volume:928 Page:148762
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Huang Chaoyu,Huang Yunhua,Pan Liqiu,Li Linlin,Ling Xiaoting,Wang Chenghan,Xiao Qingxing,Zhai Ningneng,Long Yan,Mo Wuning,Lin Faquan^ORCID,Huang Yifang^ORCID

Publisher

Elsevier BV

Reference32 articles.

1. Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report;Bozkurt;BMC Med. Genom.,2021

2. Crystal structure of the human glucose transporter GLUT1;Deng;Nature.,2014

3. Structures and general transport mechanisms by the Major Facilitator Superfamily (MFS);Drew;Chem. Rev.,2021

4. An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome;Ferlaino;BMC Bioinform.,2017

5. Clinical and genetic characteristics of chinese children with GLUT1 deficiency syndrome: case report and literature review;Hu;Front. Genet.,2021

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