A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.

doi:10.1136/jmg.2006.044719

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Article

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.

Journal of medical genetics - 1 Apr 2007

Antonio Casado José, Callén Elsa, Jacome Ariana, Río Paula, Castella Maria, Lobitz Stephan, Ferro Teresa, Muñoz Arturo, Sevilla Julián, Cantalejo Angeles, Cela Elena, Cervera José, Sánchez-Calero Jesús, Badell Isabel, Estella Jesús, Dasí Angeles, Olivé Teresa, José Ortega Juan, Rodriguez-Villa Antonia, Tapia María, Molinés Antonio, Madero Luis, Segovia José C, Neveling Kornelia, Kalb Reinhard, Schindler Detlev, Hanenberg Helmut, Surrallés Jordi, Bueren Juan A

Abstract excerpt

BACKGROUND: Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients in gene therapy trials. OBJECTIVE: To determine the subtype of Fanconi anaemia patients in...

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PMID: 17105750
DOI: 10.1136/jmg.2006.044719
PMCID: PMC2598052

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