(Q57215472)

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Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

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Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome (English)

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Jong Hee Chae

1

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Yong Seung Hwang

series ordinal

2

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Ki Joong Kim

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3

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language of work or name

English

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publication date

January 2002

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published in

Journal of Child Neurology

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volume

17

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issue

1

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page(s)

33-6

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cites work

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

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21 January 2018

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Crossref

reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

MECP2 mutations account for most cases of typical forms of Rett syndrome.

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

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21 January 2018

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

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reference URL

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21 January 2018

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

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Crossref

reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

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21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

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21 January 2018

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

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Crossref

reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

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https://api.crossref.org/works/10.1177%2F088307380201700108

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21 January 2018

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

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reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Mutation screening in Rett syndrome patients.

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Crossref

reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Rett syndrome: a surprising result of mutation in MECP2.

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Crossref

reference URL

https://api.crossref.org/works/10.1177%2F088307380201700108

retrieved

21 January 2018

Identifiers

DOI

10.1177/088307380201700108

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PubMed publication ID

11913567

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(Q57215472)

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

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