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pro vyhledávání: '"Adrianna L Henson"'
Autor:
Sharon A Singh, Tracie A Goldberg, Adrianna L Henson, Sehba Husain-Krautter, Abdallah Nihrane, Lionel Blanc, Steven R Ellis, Jeffrey M Lipton, Johnson M Liu
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89098 (2014)
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome caused by ribosomal protein haploinsufficiency. DBA exhibits marked phenotypic variability, commonly presenting with erythroid hypoplasia, less consistently with non-eryth
Externí odkaz:
https://doaj.org/article/e7e05754df2d4038a1531abf0ed91625
Autor:
Gulay, Sezgin, Adrianna L, Henson, Abdallah, Nihrane, Sharon, Singh, Max, Wattenberg, Pascale, Alard, Steven R, Ellis, Johnson M, Liu
Publikováno v:
Pediatric bloodcancer. 60(2)
Shwachman-Diamond syndrome (SDS), associated with SBDS mutations, is characterized by pancreatic exocrine dysfunction and marrow failure. Sdo1, the yeast ortholog of SBDS, is implicated in maturation of the 60S ribosomal subunit, with delayed export