Associated Papers
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G et al.
Jimd Reports, 2020
Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.
Gaetani M et al.
Blood, 2008
[Genetic heterogeneity and phenotypic variability of hereditary diseases. 2].
Gencík A
Vnitrni Lekarstvi, 1977
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