Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or w...

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Hoofdauteurs: Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi Publishing Corporation 2014
Onderwerpen:
Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4058505/
https://ncbi.nlm.nih.gov/pubmed/24987673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/195793
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