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

Ижил төстэй зүйлс

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