Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Những quyển sách tương tự

• Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
  Bằng: Ridout, C, et al.
  Được phát hành: (2008)
• Splicing mutations in the PDHA1 gene
  Bằng: Ridout, C, et al.
  Được phát hành: (2008)
• Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency
  Bằng: Thi Thanh Ngan Nguyen, et al.
  Được phát hành: (2024-12-01)
• Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
  Bằng: McWilliam, C, et al.
  Được phát hành: (2010)
• Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
  Bằng: Brown, R, et al.
  Được phát hành: (2004)