Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Những quyển sách tương tự

• 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.
  Bằng: Chun, K, et al.
  Được phát hành: (1995)
• Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
  Bằng: Robinson, B H, et al.
  Được phát hành: (1990)
• Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
  Bằng: Dahl, H H, et al.
  Được phát hành: (1990)
• PdhR, the Pyruvate Dehydrogenase Repressor, Does not Regulate Lipoic Acid Synthesis
  Bằng: Feng, Youjun, et al.
  Được phát hành: (2014)
• The gene for the alpha polypeptide of pyruvate dehydrogenase is X-linked in humans.
  Bằng: Szabo, P, et al.
  Được phát hành: (1990)