New variant in the FBXL4 gene - leading to mitochondrial DNA depletion syndrome
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous. MTDPS is a rare autosomal recessive disease caused by a mutation of a nuclear gene named FBXL4 (F-box and leucine-rich repeat...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Book |
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Hygeia Press di Corridori Marinella,
2024-04-01T00:00:00Z.
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