The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey-Reference-Cited by-同舟云学术

The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey

Published:2008-06 Issue:2 Volume:12 Page:279-288
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Falbo Vincenzo¹,Floridia Giovanna¹,Tosto Fabrizio¹,Censi Federica¹,Salvatore Marco¹,Ravani Anna²,Ferlini Alessandra²,Melis Maria Antonietta³,Grasso Marina⁴,Bricarelli Franca Dagna⁴,Taruscio Domenica¹

Affiliation:

1. Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, National Centre for Rare Diseases, Rome, Italy.

2. Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy.

3. Department of Biomedical and Biotechnology Sciences, Università di Cagliari, Cagliari, Italy.

4. Laboratory of Human Genetics, E.O. Ospedale Galliera, Genua, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0099

Reference45 articles.

1. Methodologic European External Quality Assurance for DNA Sequencing: The EQUALseq Program

2. The mGluR theory of fragile X mental retardation

3. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test

4. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat usingPfu polymerase

5. International genetic testing

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