期刊
JOURNAL OF NEURAL TRANSMISSION
卷 123, 期 11, 页码 1301-1307出版社
SPRINGER WIEN
DOI: 10.1007/s00702-016-1578-6
关键词
SNCA; alpha-synuclein; Parkinson's disease; Genetics
Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.
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