摘要
粘多糖贮积症ⅣＡ 型（ＭＰＳⅣＡ）是由于溶酶体内Ｎ乙酰半乳糖胺６硫酸酯酶（ＧＡＬＮＳ）缺乏而引起的一种常染色体隐性遗传病（ＡＲ）。对ＭＰＳⅣＡ 的研究近年来取得了重大进展。本文就ＭＰＳⅣＡ 的发病机理、ＧＡＬＮＳ基因结构、基因变异类型以及基因诊断的最新进展作一综述。
出处
《国外医学（遗传学分册）》
1999年第4期173-179,共7页
Foreign Medical Sciences(Section of Genetics )
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2唐佳,潘敬新,蒋玮莹,郭奕斌.一例抗维生素D佝偻病的基因诊断和新突变的致病性鉴定[J].中华临床医师杂志（电子版）,2012,6(5). 被引量：8
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