Evidence map›Paper›PMID 38062488›Full record

ArticleHuman genomics2023

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Xiuqin BaoMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Danqing QinMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Jicheng WangMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Jing ChenPrenatal Diagnosis Center, The Second People's Hospital of Zhaoqing, Zhaoqing, Guangdong, People's Republic of China.
Cuize YaoMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Jie LiangMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Kailing LiangMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Yixia WangMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Yousheng WangGrassroots Guidance and Collaboration Section, Guangdong Women and Children Hospital, Guangzhou, 510010, Guangdong, People's Republic of China.
Li DuMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China. lier28@163.com.
Aihua YinMedical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China. yinaihua@2980.com.
Guangdong Province Women and Children Hospital · CNThe First People's Hospital of Zhaoqing · CN

Funding

Basic and Applied Basic Research Foundation of Guangdong Province 2022A1515220207Guangzhou Municipal Science and Technology Project 202002030390Guangzhou Municipal Science and Technology Project 202201011361National Natural Science Foundation of China 82100136
6 · The paper itself

Abstract

backgroundβ-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.

resultsIn this study, we found two novel deletion mutations in two unrelated families, HBB: c.180delG (termed β

conclusionOur study broadens the variants spectral of β-thalassemia in Chinese population and provides theoretical guidance for the prenatal diagnosis.

Indexed as

beta-Thalassemiabeta-GlobinsChinaFemaleHumansMutationPregnancyPrenatal DiagnosisSequence Deletionbeta-GlobinsNovel mutationsPremature terminationTruncated peptideβ-Thalassemiaβ-Thalassemia trait

Identifiers

PMID38062488
PMCPMC10704694
OpenAlexW4389484394

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.