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Article

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

Blood - 1 Mar 2005

Callén Elsa, Casado José A, Tischkowitz Marc D, Bueren Juan A, Creus Amadeu, Marcos Ricard, Dasí Angeles, Estella Jesús M, Muñoz Arturo, Ortega Juan J, de Winter Johan, Joenje Hans, Schindler Detlev, Hanenberg Helmut, Hodgson Shirley V, Mathew Christopher G, Surrallés Jordi

Abstract excerpt

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...

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Source

Identifiers

PMID: 15522956
DOI: 10.1182/blood-2004-07-2588

Genes

FANCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15522956-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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