Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy.
Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy.
复制标题
对具有导致 Leber 遗传性视神经病的 11778A 突变的波兰患者进行异质性分析。
DOI：
10.18388/abp.2002_3843
复制
发表时间：
2002
影响因子：
1.7
通讯作者：
E. Bartnik
中科院分区：
文献类型：
--
作者：
Katarzyna Mroczek;Dorota Ratajska;Cecile Guillot;M. Sąsiadek;A. Ambroziak;Leszek Lubos;E. Bartnik
We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of mitochondrial DNA and obtained a negative result.
人类线粒体疾病：回答问题和质疑答案。
DOI：
10.1016/s0074-7696(08)61051-7
发表时间：
1999
期刊：
International review of cytology
影响因子：
--
作者：
Howell,N
通讯作者：
Howell,N