Identification of a novel non-canonical splice-site variant in abcd1

HIGHLIGHTS

  • who: Feixia Zheng and colleagues from the Department of Pediatrics, The Second Affiliated Hospital and Yuying Children`s Hospital of Wenzhou Medical University, Wenzhou, China have published the paper: Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1, in the Journal: (JOURNAL)
  • what: The authors aimed to investigate the 2 of 10 underlying pathogenic mechanism of a potentially unknown ABCD1 variant that caused CALD in members of a Chinese family with a negative gene panel test. The study was approved by the Research Ethics Board of the Second Affiliated Hospital of Wenzhou Medical . . .

     

    Logo ScioWire Beta black

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

    Thanks :)

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

     

Scroll to Top

Add A Knowledge Base Question !

+ = Verify Human or Spambot ?