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Article

Rater reliability of fragile X mutation size estimates: a multilaboratory analysis.

American journal of medical genetics - 9 Aug 1996

Fisch G S, Carpenter N, Maddalena A, Tarleton J, Julien-Inalsingh C, Holden J J

Abstract excerpt

Notwithstanding the use of comparable molecular protocols, description and measurement of the fra(X) (fragile X) mutation may vary according to its appearance as a discrete band, smear, multiple bands, or mosaic. Estimation of mutation size may also differ from one laboratory to another. We repor...

Topics

Adolescent
Autoradiography
Blotting, Southern
Child
Child, Preschool
DNA
Female
Fragile X Syndrome
Humans
Laboratories
Male
Mutation
Reproducibility of Results

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8844073
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<319::AID-AJMG17>3.0.CO;2-I

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8844073-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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