A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence

Antzeko izenburuak

• Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
  nork: Miyamoto, Yuki, et al.
  Argitaratua: (2017)
• A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder
  nork: Shimojima, Keiko, et al.
  Argitaratua: (2017)
• Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
  nork: Yuki Miyamoto, et al.
  Argitaratua: (2017-04-01)
• Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy
  nork: Purnell, Shawn M., et al.
  Argitaratua: (2014)
• A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
  nork: Sangu, Noriko, et al.
  Argitaratua: (2016)