Associated Papers
CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.
Yamada N et al.
International Journal of Hematology, 2025
A computational study of the fold and stability of cytochrome c with implications for disease.
Yousaf MA et al.
International Journal of Biological Macromolecules, 2025
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Marzollo A et al.
British Journal of Haematology, 2024
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.
Lu Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2017
Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.
Wallace DC et al.
Handbook of Experimental Pharmacology, 2017
Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.
Kumar M et al.
Molecular Vision, 2010
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