Open Access
Open access
Elsevier
Genes and Diseases
,  volume 11 ,  issue 6 ,  pages 101375

A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops

Wei Hou 1, 2, 3
, 
Wei Liu 1, 2, 3
, 
Gui-Fang Huang 4
, 
Hong Yu Wei 5
, 
Wen-Wei Li 2, 3
, 
Houfeng Huang 6
, 
Hongzhan Huang 6
, 
Yuling Qiu 2, 3
, 
Hengying  Zhu 2, 3
, 
Huifeng Han 7
, 
Ping Chen 2, 3
, 
Zhijun Zhang 1, 8
, 
Xue Zhang 1, 8
1
 
2
 
3
 
NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China | 
4
 
Department of Eugenic Genetics, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China | 
5
 
6
 
Department of Ultrasound Imaging, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China | 
7
 
Department of Bioinformatics, Berry Genomics Co., Ltd., Beijing 102206, China | 
8
 
Publication type: Journal Article
Publication date: 2024-11-01
Elsevier
scimago Q1
wos Q1
SJR: 1.646
CiteScore: 8.4
Impact factor: 9.4
ISSN: 23523042, 23524820
Found 

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GOST |
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GOST Copy
Hou W. et al. A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops // Genes and Diseases. 2024. Vol. 11. No. 6. p. 101375.
GOST all authors (up to 50) Copy
Hou W., Liu W., Huang G., Wei H. Yu., Li W., Huang H., Huang H., Qiu Y., Zhu H., Han H., Chen P., Zhang Z., Zhang X. A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops // Genes and Diseases. 2024. Vol. 11. No. 6. p. 101375.
RIS |
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RIS Copy
TY - JOUR
DO - 10.1016/j.gendis.2024.101375
UR - https://linkinghub.elsevier.com/retrieve/pii/S2352304224001727
TI - A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops
T2 - Genes and Diseases
AU - Hou, Wei
AU - Liu, Wei
AU - Huang, Gui-Fang
AU - Wei, Hong Yu
AU - Li, Wen-Wei
AU - Huang, Houfeng
AU - Huang, Hongzhan
AU - Qiu, Yuling
AU - Zhu, Hengying 
AU - Han, Huifeng
AU - Chen, Ping
AU - Zhang, Zhijun
AU - Zhang, Xue
PY - 2024
DA - 2024/11/01
PB - Elsevier
SP - 101375
IS - 6
VL - 11
PMID - 39211906
SN - 2352-3042
SN - 2352-4820
ER -
BibTex |
Cite this
BibTex (up to 50 authors) Copy
@article{2024_Hou,
author = {Wei Hou and Wei Liu and Gui-Fang Huang and Hong Yu Wei and Wen-Wei Li and Houfeng Huang and Hongzhan Huang and Yuling Qiu and Hengying  Zhu and Huifeng Han and Ping Chen and Zhijun Zhang and Xue Zhang},
title = {A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops},
journal = {Genes and Diseases},
year = {2024},
volume = {11},
publisher = {Elsevier},
month = {nov},
url = {https://linkinghub.elsevier.com/retrieve/pii/S2352304224001727},
number = {6},
pages = {101375},
doi = {10.1016/j.gendis.2024.101375}
}
MLA
Cite this
MLA Copy
Hou, Wei, et al. “A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops.” Genes and Diseases, vol. 11, no. 6, Nov. 2024, p. 101375. https://linkinghub.elsevier.com/retrieve/pii/S2352304224001727.