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Article

[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR].

Casopis lekaru ceskych - 12 Jan 1998

Bóday A, Mat'oska V, Konrádová V, Havlovicová M, Musová Z, Krejcová S, Seemanová E

Abstract excerpt

BACKGROUND: Fragile X syndrome is gonosomal recessive mental retardation with the frequency 1:1000 in male population. Fragile X syndrome is caused by amplification of CGG repeat in 1. exon of FMT-1 gene. The aim of this study was to set up and validate a rapid and efficient PCR diagnosis to select FRAXA negative patients in population of mental retarded patients. METHODS AND RESULTS: In the set up phase of the...

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PMID: 9511273

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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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