Consulta: creatorFacets:"Jeng,M."
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Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation
Provedor de dados: 56
Autores: Magdalena,N.; Pilonetto,D.V.; Bitencourt,M.A.; Pereira,N.F.; Ribeiro,R.C.; Jeng,M.; Pasquini,R.
Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anemia; FANCA; 3788-3790del mutation; Genetic screening.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000500003