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Article

Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.

Journal of child neurology - 1 Mar 2017

Chowdhury Madhumita Roy, Chauhan Sandeepa, Dabral Anjali, Thelma B K, Gupta Neerja, Kabra Madhulika

Abstract excerpt

Molecular genetic testing for fragile X (FX) is complicated due to the large variation in the size of CGG expansion. The aim of this study was to apply this new technique using AmplideX FMR1 PCR assay, which is considered a better diagnostic tool for detecting expanded alleles in Indian population. The primary objective was to identify the carrier status of females and to correlate the instability of premutation...

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Source

Identifiers

PMID: 28193118
DOI: 10.1177/0883073816683075

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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