Article
[Molecular diagnosis of fragile X syndrome with polymerase chain reaction: application of a diagnostic protocol in 50 families from northern Spain].
Anales espanoles de pediatria - 1 Apr 2001
Durán Domínguez M, Molina Carrillo M, Fernández Toral J, Martínez Merino T, López Arístegui M A, Alvarez Retuerto A I, Onaindía Urquijo M L, Tejada Mínguez M I
Abstract excerpt
OBJECTIVES: The aim of this study was to develop a rapid, non-radioactive and effective method for the molecular diagnosis of fragile X syndrome (FXS) by the polymerase chain reaction (PCR) of the CGG repeat and to establish a protocol to be used in: a)ruling out FXS in patients with non-specific mental retardation; b)determining the exact genotype of affected individuals; c)studying all at-risk individuals from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.