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

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

Item
http://www.wikidata.org/entity/Q28139865
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.The many facets of H/ACA ribonucleoproteinsDiamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.Recent insights into the pathogenesis of Diamond-Blackfan anaemia.Diamond-Blackfan anemia, ribosome and erythropoiesis.Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.A genetic screen in zebrafish defines a hierarchical network of pathways required for hematopoietic stem cell emergence.Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia
P2860

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

Item
http://www.wikidata.org/entity/Q28139865
description
2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@ast
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@en
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@nl
type
label
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@ast
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@en
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@nl
prefLabel
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@ast
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@en
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Diamond-Blackfan anemia: repor ...... eity in the Italian population
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921