GCH1 heterozygous mutation identified by whole-exome-sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

समान संसाधन

• Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
  द्वारा: Haskell, Gloria T., और अन्य
  प्रकाशित: (2018)
• Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
  द्वारा: Oh, Ja-Young, और अन्य
  प्रकाशित: (2016)
• High Diagnostic Yield of Whole Exome Sequencing in Participants with Retinal Dystrophies in a Clinical Ophthalmology Setting
  द्वारा: Lee, Kristy, और अन्य
  प्रकाशित: (2015)
• Spastic Paraplegia
  द्वारा: Henderson, A. M.
  प्रकाशित: (1905)
• SPASTIC PARAPLEGIA
  द्वारा: Bankart, A. S. Blundell
  प्रकाशित: (1927)