CMT X associated with three novel point mutations of the GJB1 gene, c.118G > A (p.Ala40Thr), c.72G > T (p. Trp24Cys), and c.793C > T (p.Arg265Cys) Meeting Abstract

cited authors

  • Jerath, Nivedita

Publication Date

  • December 1, 2020

webpage

category

keywords

  • CMT X
  • Novel point mutations

start page

  • 513

end page

  • 514

volume

  • 25

issue

  • 4