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High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype am...

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Detalles Bibliográficos
Autores principales: Amouri, Ahlem, Talmoudi, Faten, Messaoud, Olfa, d'Enghien, Catherine D, Rekaya, Mariem B, Allegui, Ines, Azaiez, Héla, Kefi, Rym, Abdelhak, Ahlem, Meseddi, Sondes H, Torjemane, Lamia, Ouederni, Monia, Mellouli, Fethi, Abid, Héla B, Aissaoui, Lamia, Bejaoui, Mohamed, Othmen, Tarek B, Lyonnet, Dominique S, Soulier, Jean, Hachicha, Mongia, Dellagi, Koussay, Abdelhak, Sonia, Fanconi, Tunisian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960058/
https://www.ncbi.nlm.nih.gov/pubmed/24689079
http://dx.doi.org/10.1002/mgg3.55