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Article

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

American journal of medical genetics. Part A - 15 Jul 2006

Wada Takahito, Fukushima Yoshimitsu, Saitoh Shinji

Abstract excerpt

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, OMIM 301040) is a syndromic form of X-linked mental retardation (XLMR). It is caused by a mutation in the ATRX gene, which is also involved in other syndromic forms of XLMR as well as in non-syndromic XLMR, both in males and in females. To analyze the full range of disease-causing mutations for genetic counseling and to establish phenotype-genotype...

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Share to alpha-Thalassemia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16763962
DOI: 10.1002/ajmg.a.31310

Genes

ATRX
ATR

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.

Related research

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A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.PMID 16763962Read ↗

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New heritable ATRX mutation identified by whole exome sequencing and reviewSemantic proximity Read ↗

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A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.Semantic proximity Read ↗

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.Semantic proximity Read ↗

Mutations in the chromatin-associated protein ATRX.Semantic proximity Read ↗

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[X-linked alpha-thalassemia/mental retardation syndrome].Semantic proximity Read ↗

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