Open Access Research article

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

Vincenza Barresi12, Angela Ragusa8, Marco Fichera7, Nicolò Musso1, Lucia Castiglia7, Giancarlo Rappazzo4, Salvatore Travali3, Teresa Mattina5, Corrado Romano7, Guido Cocchi6 and Daniele F Condorelli12*

Author Affiliations

1 Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Catania, Italy

2 Section of Biochemistry and Molecular Biology, Department of Chemical Sciences, University of Catania, Catania, Italy

3 Department of Biomedical Sciences, University of Catania, Catania, Italy

4 Department of Animal Biology, University of Catania, Catania, Italy

5 Department of Pediatrics, University of Catania, Catania, Italy

6 ICPPN, Bologna, Italy

7 IRCCS OASI Maria SS Troina, Catania, Italy

8 UOC Diagnosi Prenatale Laboratorio di Genetica Umana AOU Policlinico-Vittorio Emanuele, Catania, Italy

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BMC Medical Genomics 2010, 3:28  doi:10.1186/1755-8794-3-28

Published: 6 July 2010

Additional files

Additional file 1:

Table S1: Primers and probes used for qRT-PCR.

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Additional file 2:

Figure S1: Sequence alignment of the GRAF1/OPHN-1-L isoforms: variant-1, -2 and -3.

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