Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family

Lignende værker

• Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability
  af: Naseer, Muhammad Imran, et al.
  Udgivet: (2020)
• Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly
  af: Naseer, Muhammad Imran, et al.
  Udgivet: (2021)
• Whole Exome Sequencing Reveals Two Novel Homozygous Variants in the TRAPPC9 and PLOD3 Genes Leading to Intellectual Disability and Bone Fragility with Contractures
  af: Angham Abdulrahman Abdulkareem, et al.
  Udgivet: (2023-08-01)
• Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly
  af: Imran Naseer, Muhammad, et al.
  Udgivet: (2021)
• Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly
  af: Naseer, Muhammad Imran, et al.
  Udgivet: (2020)