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中文摘要：
MAN281基因突变导致α-甘露糖苷酶缺乏或活性降低是引起α-甘露糖苷贮积症的根本内因。对MAN2BI基因、LAMAN酶的结构和功能的研究、基因型与表现型的相关性研究以及诊防治方面的研究近年来都取得了诸多新进展。本文重点围绕这几方面作一综述。
英文摘要：
The basic cause of alpha-mannosidosis is the deficiency of alpha-mannosidase resulting from the MAN2B1 gene mutation. In resent years, there are plenty of research progress with the study of the structure and function of MAN2B1 gene and LAMAN enzyme, the relationship between the genotype and phenotype, and prevention and treatment. This paper focus on these aspects to make a summary.
同期刊论文项目
同项目期刊论文
Mucopolysaccharidosis type IIIB mutations in Chinese patients: Identification of two novel mutations
Non-invasive Prenatal Gene Diagnosis: Progress through Cell-free Fetal DNA and RNA in Maternal Plasm
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