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Updated: Jan 13, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

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一种新的Alpha1-变体 (HBA1:c.-35T>C) 与中国人群中首次报告的Hb M-Saskatoon复合

Yujing Yang1, Yunhu Zhao1, Luan Luan2

  • 1Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.

Molecular genetics & genomic medicine
|January 7, 2026
PubMed
概括

一个新型的α1-环球蛋白变体 (HBA1:c.-35T>C) 与Hb M-萨斯卡通 (HBB:c.190C>T) 一起在一个中国患者中被发现. 这种共同发生代表了血红蛋白病变的独特案例,扩大了全球注册表,并有助于诊断复杂的遗传血液疾病.

关键词:
Hb M-萨斯卡通地区的阿尔法变体.色症是指色的情况.血红蛋白变体的不同类型

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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