Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy

Lignende værker

• A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
  af: Lu, Yongping, et al.
  Udgivet: (2017)
• Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
  af: Yuki Miyamoto, et al.
  Udgivet: (2017-04-01)
• Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
  af: Miyamoto, Yuki, et al.
  Udgivet: (2017)
• Atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by TUBB4A mutation: one case report
  af: Jing⁃yuan QIE, et al.
  Udgivet: (2019-11-01)
• Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
  af: Yan, Huifang, et al.
  Udgivet: (2021)