POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

Ítems similars

• Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease
  per: Voglmeir, Josef, et al.
  Publicat: (2011)
• Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease
  per: Uribe, Mary Luz, et al.
  Publicat: (2016)
• RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1
  per: Dwyer, Chrissa A., et al.
  Publicat: (2012)
• Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
  per: Saredi, S., et al.
  Publicat: (2012)
• Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
  per: d Beltran-Valero,, et al.
  Publicat: (2004)