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Article

Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.

Journal of medical genetics - 1 Dec 1992

Tarleton J, Wong S, Schwartz C

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Share to Fragile X Syndrome
Share to Chromosome Fragility
Share to DNA Restriction Enzymes
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Repetitive Sequences, Nucleic Acid

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Identifiers

PMID: 1336058
DOI: 10.1136/jmg.29.12.919
PMCID: PMC1016214

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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.

Related research

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Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.PMID 1336058Read ↗

The fragile-X syndrome after the discovery of the FMR-1 gene. The clinical geneticist faced with the unravelled enigmas and persisting difficulties in genetic counseling.Semantic proximity Read ↗

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.Semantic proximity Read ↗

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An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.Semantic proximity Read ↗

Fragile X syndrome: molecular analysis reveals a new mechanism of mutation in human genetic diseases.Semantic proximity Read ↗

The fragile-X syndrome: a growing gene causing familial intellectual disability.Semantic proximity Read ↗

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]Semantic proximity Read ↗

[Diagnosis of fragile X syndrome].Semantic proximity Read ↗

The fragile X syndrome.Semantic proximity Read ↗

Apparent FMR1 allele instability in non-fragile X males.Semantic proximity Read ↗

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.Semantic proximity Read ↗

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