Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency
Apr 01, 2022•4 min
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Episode description
Dr Kristin Ørstavik explains her team's observations of three patients with a novel mutation in the HADHB gene leading to a mild form of FTP deficiency.
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kristin Ørstavik, et al
https://doi.org/10.1002/jmd2.12276
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