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Article

C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2012

Arikan Y, Bilgen T, Koken R, Turan S, Mihci E, Keser I

Abstract excerpt

ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We investigated the most common ARX mutations, c.428_451 dup(24bp) and c.333ins (GCG)7 in a series of 370 mentally retarded FMR1 (CGG)n expansion mutation negative Turkish patients using PCR amplification and high resolution MetaPhor agarose gel electrophoresis. Sequence analysis was also performed for confirmation and...

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Source

Identifiers

PMID: 23072184

Genes

ARX
FMR1
GCG

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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