Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

Lignende værker

• Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
  af: Kim, Hee-Jin , et al.
  Udgivet: (2007)
• Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing
  af: Nam, Soo Hyun, et al.
  Udgivet: (2016)
• Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
  af: Park, Hyung Jun, et al.
  Udgivet: (2015)
• Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities
  af: Ah Jin Lee, et al.
  Udgivet: (2025-03-01)
• Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
  af: LEE, JINHO, et al.
  Udgivet: (2016)