Condition: Diamond-Blackfan Anemia 1


rs104894711 in MIR6797;RPS19 gene and Diamond-Blackfan Anemia 1 PMID 12750732 2003 Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.

PMID 17517689 2007 Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 9988267 1999 The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

PMID 12586610 2003 Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 18412286 2008 RPS19 mutations in patients with Diamond-Blackfan anemia.

PMID 15384984 2004 RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

rs104894717 in RPS19 gene and Diamond-Blackfan Anemia 1 PMID 12750732 2003 Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.

PMID 17517689 2007 Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 18412286 2008 RPS19 mutations in patients with Diamond-Blackfan anemia.

PMID 12586610 2003 Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 9988267 1999 The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

PMID 15384984 2004 RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

rs786200936 in RPS19;MIR6797 gene and Diamond-Blackfan Anemia 1 PMID 15384984 2004 RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 17517689 2007 Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

PMID 12586610 2003 Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

PMID 18412286 2008 RPS19 mutations in patients with Diamond-Blackfan anemia.

PMID 12750732 2003 Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 9988267 1999 The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.