Case report: two unique nonsense mutations in htra1-related cerebral small vessel disease in a chinese population and literature review

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 . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or E-mail:

  If you don't have an account, you can create one here.