Diamond-Blackfan Anemia: Report of Seven Further Mutations in the RPS19 Gene and Evidence of Mutation Heterogeneity in the Italian Population
β Scribed by U Ramenghi; M.F Campagnoli; E Garelli; A Carando; A Brusco; G.P Bagnara; P Strippoli; G.C Izzi; S Brandalise; R Riccardi; I Dianzani
- Book ID
- 115590056
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 60 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1079-9796
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Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are fo
Germline mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a dominantly inherited syndrome characterized by the development of hundreds to thousands of polyps in the colon and in the rectum of affected individuals and by variable extracolonic manifestations (gastric