Associated Papers
Understanding the molecular basis of the mutation in the RNA polymerase III subunit Rpc10 (R41W)- associated with hypomyelinating leukodystrophy in the yeast homolog Rpc11.
Mishra S et al.
Biochemical and Biophysical Research Communications, 2025
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Xie Y et al.
Orphanet Journal of Rare Diseases, 2024
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
Blood, 2001
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