- Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expressionT N Willig
Life Science Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA
Blood 94:4294-306. 1999..The lack of a consistent relationship between the nature of the mutations and the clinical phenotype implies that yet unidentified factors modulate the phenotypic expression of the primary genetic defect in families with RPS19 mutations...
- High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP)T N Willig
Département de Pédiatrie et Laboratoire d Hématologie, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Bicetre, France
Blood 92:4422-7. 1998..These findings suggest that elevated eADA activity in unaffected individuals needs to be taken into account during genetic assessment of DBA families and could be used for accurate assessment of mode of inheritance...
- Diamond-Blackfan anemiaL Da Costa
Lawrence Berkeley National Laboratory, California 94720, USA
Curr Opin Pediatr 13:10-5. 2001..The pathogenesis of DBA is still to be fully defined and it is anticipated that further molecular studies will lead to a better understanding of this complex disease...
- The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemiaN Draptchinskaia
Department of Genetics and Pathology, Uppsala University, Sweden
Nat Genet 21:169-75. 1999..These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis...