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

समान संसाधन

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