121例罕见地中海贫血基因突变类型检测结果分析

doi:10.3760/cma.j.issn.1007-1245.2024.13.015

国际医药卫生导报 ›› 2024, Vol. 30 ›› Issue (13): 2190-2197.DOI: 10.3760/cma.j.issn.1007-1245.2024.13.015

121例罕见地中海贫血基因突变类型检测结果分析

陈芳陈明发

南平市妇幼保健院产前诊断中心，南平　353000

收稿日期:2024-03-18 出版日期:2024-07-01 发布日期:2024-08-01
通讯作者: 陈明发，Email：735747166@qq.com
基金资助:
福建省重大专项专题项目——重大疾病防治技术（2021YZ034011）；南平市自然科学基金（2019J44）

Analysis of genetic mutation types in 121 cases of rare thalassemia

Chen Fang, Chen Mingfa

Prenatal Diagnosis Center, Nanping Maternal and Child Health Hospital, Nanping 353000, China

Received:2024-03-18 Online:2024-07-01 Published:2024-08-01
Contact: Chen Mingfa, Email: 735747166@qq.com
Supported by:
Key Special Project for Technology in the Prevention and Treatment of Major Diseases in Fujian (2021YZ034011); Nanping Natural Science Foundation (2019J44)

摘要/Abstract

关键词:

地中海贫血, 基因突变, 基因检测, Sanger测序, 优生优育

Key words:

Thalassemia, Gene mutations, Genetic testing, Sanger sequencing, Genetic counseling and eugenic

陈芳陈明发.

121例罕见地中海贫血基因突变类型检测结果分析 [J]. 国际医药卫生导报, 2024, 30(13): 2190-2197.

Chen Fang, Chen Mingfa.

Analysis of genetic mutation types in 121 cases of rare thalassemia [J]. International Medicine and Health Guidance News, 2024, 30(13): 2190-2197.

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121例罕见地中海贫血基因突变类型检测结果分析

Analysis of genetic mutation types in 121 cases of rare thalassemia

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