A common founder mutation in FANCA underlies the world highest prevalence of Fanconi anemia in Gypsy families from Spain
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چکیده
Prepublished online November 2, 2004; Schindler, Helmut Hanenberg, Shirley V Hodgson, Christopher G Mathew and Jordi Surralles Angeles Dasi, Jesus M Estella, Arturo Munoz, Juan J Ortega, Johan de Winter, Hans Joenje, Detlev Elsa Callen, Jose A Casado, Marc D Tischkowitz, Juan A Bueren, Amadeu Creus, Ricard Marcos, prevalence of Fanconi anemia in gypsy families from Spain underlies the world highest FANCA A common founder mutation in
منابع مشابه
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading t...
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BACKGROUND Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~10%) or FANCD2 (3-6%) genes. We have already reported the FANCA variant c.190-256_283+1680del2040dupC as a founder mutation among Macedonia...
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