Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

समान संसाधन

• Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
  द्वारा: Li, Shan, और अन्य
  प्रकाशित: (2019)
• The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium
  द्वारा: DeRosa, Adam M., और अन्य
  प्रकाशित: (2009)
• Functional effects of Cx50 mutations associated with congenital cataracts
  द्वारा: Rubinos, Clio, और अन्य
  प्रकाशित: (2013)
• A Connexin50 Mutant, CX50fs, That Causes Cataracts Is Unstable, but Is Rescued by a Proteasomal Inhibitor
  द्वारा: Minogue, Peter J., और अन्य
  प्रकाशित: (2013)
• A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract
  द्वारा: Wang, Kai Jie, और अन्य
  प्रकाशित: (2012)