HIGHLIGHTS
- who: Weijie Chen from the Sichuan University, China have published the research work: Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review, in the Journal: (JOURNAL)
- what: Neither of the two patients in the study had apparent symptoms of alopecia or lumbago, which was consistent with previous findings, in which HTRA1-CSVD had a lower incidence of extra-neurological symptoms than classic CARASIL . The authors reported two HTRA1-CSVD patients with ischemic stroke at a young age, with two unique nonsense_mutations: c.1096G >T . . .
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