Huafang Jiang

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Publications (3)

• Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
  Journal of Human Genetics 2025 DOI: 10.1038/s10038-024-01291-0
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• Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations
  Stem Cell Research 2023 DOI: 10.1016/j.scr.2023.103206
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• Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency
  Journal of Inherited Metabolic Disease 2022 DOI: 10.1002/jimd.12462
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