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[Mutational analysis of MECP2 gene in Rett syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2002

Pan Hong, Wang Yanping, Meng Hongdi, Bao Xinhua, Zhang Yan, Shen Yan, Wu Xiru

Abstract excerpt

OBJECTIVE: To investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China. METHODS: Polymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients. RESULTS: Nine different mutations in exon 3 were identified in...

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Share to Chromosomal Proteins, Non-Histone
Share to Methyl-CpG-Binding Protein 2

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutagenesis, Insertional

Share to Mutation, Missense

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 12170461

Genes

MECP2

Provenance

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.

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