Diamond-Blackfan anemia
OMIM:105650Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | RPS19 |
|---|---|
| Reference transcript | NM_001022.3 |
| DNA Change | c.166C>T |
| A.A. Change | p.Arg56Stop |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Proust A, Da Costa L, Rince P, Landois A, Tamary H, Zaizov R, Tchernia G, Delaunay J; SHIP Working Group on DBA.Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. Hematol J. 2003;4(2):132-6. |