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[A genetic and molecular study of 85 families affected with the fragile X syndrome].

Anales espanoles de pediatria - 1 Mar 1996

Milà Recasens M, Sánchez Díaz A, Glover López G, Castellví Bel S, Carbonell Meseguer P, Kruyer H, Ballesta Martínez F, Estivill Pallejà X

Abstract excerpt

The objective of this study was to analyze clinically, cytogenetically and molecularly 85 Spanish families with fragile X syndrome. Clinical studies were based on the score proposed by Hagerman, cytogenetic studies were made by adding. 5-fluorodeoxiuridine and molecular studies were performed by using a StB12.3 probe and the polymerase chain reaction (PCR). The results of the molecular studies in 620 individuals...

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PMID: 8830601

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NTM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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