- A Novel Mutation (C67Y) in the NOTCH3 Gene in a Korean CADASIL Patient
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Na DL, Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL
- KMID: 1099812
- J Korean Med Sci.
- 2003 Feb;18(1):141-144.
- doi: 10.3346/jkms.2003.18.1.141
We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel... -
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