Two parallel and complementary studies conducted by the IDIBELL team led by Dr. Alessandra Giorgetti have succeeded in recreating models of GATA2 deficiency disease, a rare genetic disorder that ...
A recently published study in Nature Communications, led by a group from the Bellvitge Biomedical Research Institute (IDIBELL) with the participation of the Germans Trias i Pujol Research Institute ...
Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome is an autosomal dominant disorder arising from mutations in the GATA3 gene, which encodes a zinc finger transcription factor crucial ...
Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...
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