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Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells.

D'Allard(Diane),Liu(Johnson) Hum Gene Ther 0000-00-00

...RPS19 gene, which leads to haploinsufficiency of Rps19 protein in most cases. However, some RPS19 missense mutations app...

Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.

Ozono(Shuichi),Mitsuo(Miho),Noguchi(Maiko)... Pediatr Int 0000-00-00

...RPS19 (c.167G > C, p. R56P). Therefore, genetic background search and early neonatal health check-ups are recommended fo...

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by wh...

Ichimura(Takuya),Yoshida(Kenichi),Okuno(Yu... Int J Hematol 0000-00-00

...RPS19 (exon 4, c.185G>A), and a splicing error of RPS7 (exon 3, c.76-1G>T), respectively. Other than the reported mutati...

Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.

Juli(Giada),Gismondi(Angelo),Monteleone(Va... Sci Rep 0000-00-00

...RPS19 causes a reduction of rRNA synthesis in cell lines of both erythroid and non-erythroid origin. A similar effect is...

A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Dia...

Zhang(Jing-Ying),Jia(Ming),Zhao(Hai-Zhao),... Blood Cells Mol Dis 0000-00-00

...RPS19) is identified as the first gene associated with DBA. RPS19 is mutated in 25% of DBA patients, but its role in DBA...

Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia...

Kubik-Zahorodna(A),Schuster(B),Kanchev(I),... Folia Biol (Praha) 0000-00-00

...RPS19. This mutant, created by the deletion of arginine 67 in RPS19, exhibits craniofacial, skeletal, and brain abnormal...

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