| Autor: |
M, Sagaseta de Ilurdoz, J, Molina, I, Lezáun, A, Valiente, G, Durán |
| Rok vydání: |
2003 |
| Předmět: |
|
| Zdroj: |
Anales del sistema sanitario de Navarra. 26(1) |
| ISSN: |
1137-6627 |
| Popis: |
Fanconi's anaemia (FA) is an autosomal recessive syndrome associated with chromosomal instability, and hypersensitivity of the DNA to claustrogenic agents. Clinically it presents a progressive marrow insufficiency, different congenital anomalies and an predisposition to malignancy. Eight complementation groups have been defined and the genes corresponding to six of them have been cloned. Recent advances in molecular biology have made it possible to investigate the relationship between the FA genotype and the nature and severity of the clinical phenotype. The treatment of FA is also the object of intense research that is currently centred on the transplant of hematopoyetic progenitors, especially successful in cases of an HLA-identical brother or sister donor, and in gene therapy, which is still in the phase of clinical research. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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