Article

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant on <em>SRSF4 </em>Gene

2023-12-14

Abstract excerpt

Serine/arginine-rich splicing factors (SRSF) are a family of proteins involved in RNA metabolism, including pre-mRNA constitutive and alternative splicing. The role of SRSF proteins on mitochondria activity has already been shown for SRSF6 but SRSF4 altered expression has never been reported as disease causing. An 8-year-old patient admitted to the Hematology Unit because of leukopenia, lymphopenia, and neutropeni...

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Literature Corpus work: 9d9e14bc-f6a2-5902-a1c9-9a492b65244a
DOI: 10.20944/preprints202312.1030.v1

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