Associated Papers
Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function.
Cha JH et al.
Molecular Therapy. Nucleic Acids, 2024
39104869 (PubMed )
Supplement: mmc1.pdf
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.
Jun JW et al.
Ophthalmic Genetics, 2023
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
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