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我中心从９０年代初起共对５个家庭的１５例遗传性高铁血红蛋白血症（ＲＣＭ）患者的ＮＡＤＨ细胞色素ｂ５还原酶（Ｃｙｔｂ５Ｒ）进行了生化、免疫学测试，并对其ｂ５ＲｃＤＮＡ基因进行了序列分析和限制性片段长度多态性分析，已发现并报道了两种基因突变类型（Ｒ５７...
Since the early 1990s, our center has conducted biochemical and immunological tests on NADH-cytochrome b5 reductase (Cytb5R) in 15 patients with hereditary methemoglobinemia (RCM) from 5 families. The b5R cDNA gene Sequence analysis and restriction fragment length polymorphism analysis, has been found and reported two types of gene mutations (R57 ...