Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Ítems similars

• Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
  per: Chun, K, et al.
  Publicat: (1991)
• Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
  per: Greer, Kane L, et al.
  Publicat: (2014)
• Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
  per: Carbone, M A, et al.
  Publicat: (1998)
• Exon Skipping in a Dysf-Missense Mutant Mouse Model
  per: Malcher, Jakub, et al.
  Publicat: (2018)
• Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
  per: Aartsma-Rus, Annemieke, et al.
  Publicat: (2007)