por
Bucerzan, Simona,
Miclea, Diana,
Lazea, Cecilia,
Asavoaie, Carmen,
Kulcsar, Andrea,
Grigorescu-Sido, Paula
Publicado 2020
“…This CNV also involved the duplication of the very conserved RPL13 gene, which could have a role for the skeletal phenotype of this patient, knowing the high level of gene expression in bone tissue and also the association with spondyloepimetaphyseal dysplasia Isidor
Toutain type, in case of splicing mutations.…”
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