Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
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DOI：
10.1023/b:boli.0000010003.14113.af
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发表时间：
2003-01-01
影响因子：
4.2
通讯作者：
Smeitink, JAM
中科院分区：
文献类型：
--
作者：
Budde, SMS;van den Heuvel, LPWJ;Smeitink, JAM
比较的临床表现，病程和实验室和影像学研究的所有患者迄今为止发表的NDUFS4突变的结果。这揭示了显著的临床异质性，即使在具有相同基因型的患者中。
A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.