Journal of Biomedical Science and Engineering

Vol.9 No.7(2016), Paper ID 67382, 5 pages

DOI:10.4236/jbise.2016.97028

 

A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis

 

Francesco Calì, Giuseppa Maria Luana Mandarà, Giuseppa Ruggeri, Corrado Romano, Valeria Chiavetta, Alda Ragalmuto, Roberto Salluzzo, Valentino Romano, Marilena Galati Tardanico, Carmelo Schepis

 

Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Unit of Medical Genetics, Azienda Sanitaria Provinciale di Ragusa, Ragusa, Italy
Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Unit of Paediatrics and Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Department of Physics and Chemistry, University of Palermo, Palermo, Italy
Laboratory of Molecular Genetics, Unit of Medical Genetics, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy
Unit of Dermatology, IRCCS Associazione Oasi Maria SS., Troina (EN), Italy

 

Copyright © 2016 Francesco Calì, Giuseppa Maria Luana Mandarà, Giuseppa Ruggeri, Corrado Romano, Valeria Chiavetta, Alda Ragalmuto, Roberto Salluzzo, Valentino Romano, Marilena Galati Tardanico, Carmelo Schepis et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

 

How to Cite this Article


Calì, F. , Mandarà, G. , Ruggeri, G. , Romano, C. , Chiavetta, V. , Ragalmuto, A. , Salluzzo, R. , Romano, V. , Tardanico, M. and Schepis, C. (2016) A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis. Journal of Biomedical Science and Engineering, 9, 337-341. doi: 10.4236/jbise.2016.97028.

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