Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

समान संसाधन

• Novel desmoplakin mutations in familial Carvajal syndrome
  द्वारा: YERMAKOVICH, DANAT, और अन्य
  प्रकाशित: (2018)
• A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
  द्वारा: Fan, Yuxin, और अन्य
  प्रकाशित: (2013)
• Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome
  द्वारा: Ferri, Lorenzo, और अन्य
  प्रकाशित: (2015)
• APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome
  द्वारा: Disciglio, Vittoria, और अन्य
  प्रकाशित: (2021)
• Endogenous Multiple Exon Skipping and Back-Splicing at the DMD Mutation Hotspot
  द्वारा: Suzuki, Hitoshi, और अन्य
  प्रकाशित: (2016)