Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Elisabetta DeLuca"'
Autor:
Elisabetta DeLuca, Joerg Heierhorst, Julie M. Quach, Andrew J. Deans, Carl R. Walkley, Louise E. Purton, Alistair M. Chalk, David J. Izon, Monique Smeets, Meaghan Wall
Mutations within the gene encoding the DNA helicase RECQL4 underlie the autosomal recessive cancer-predisposition disorder Rothmund-Thomson syndrome, though it is unclear how these mutations lead to disease. Here, we demonstrated that somatic deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171cc88c5cb2e519a7ba65c8970b69a9
https://acuresearchbank.acu.edu.au/item/86z73/the-rothmund-thomson-syndrome-helicase-recql4-is-essential-for-hematopoiesis
https://acuresearchbank.acu.edu.au/item/86z73/the-rothmund-thomson-syndrome-helicase-recql4-is-essential-for-hematopoiesis
Autor:
Julie Quach, Meaghan Wall, Jörg Heierhorst, Monique Smeets, Andrew J. Deans, Louise E. Purton, Carl R. Walkley, David J. Izon, Elisabetta DeLuca
Publikováno v:
Blood. 122:591-591
Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disorder that presents with congenital skeletal malformations, premature ageing and an increased incidence of malignant disease including osteosarcoma and hematologic malignancy. The major
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22b012cf5e59669762a7d17ff97f33d2
https://doi.org/10.1182/blood.v122.21.591.591
https://doi.org/10.1182/blood.v122.21.591.591
