Heterozygous PINK1 mutations:: A susceptibility factor for Parkinson disease?
Heterozygous PINK1 mutations:: A susceptibility factor for Parkinson disease?
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DOI：
10.1002/mds.20977
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发表时间：
2006-09-01
影响因子：
8.6
通讯作者：
Klein, Christine
中科院分区：
文献类型：
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作者：
Djarmati, Ana;Hedrich, Katja;Klein, Christine
PINK1突变导致复发性遗传性早发性帕金森病（EOPD）。我们对75名塞尔维亚人和17名南蒂罗尔人的EOPD患者进行了该基因突变的全面检测，发现了3名杂合突变携带者。其中两名患者与其受影响的亲属共享突变，进一步表明杂合PINK1突变可能是EOPD的易感因素。(c)2006年，《社会运动》创刊。
PINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD. (c) 2006 Movement Disorder Society.