(Q45059315)

9 December 2017

title

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls (English)

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9 December 2017

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Julie C Evans

1

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9 December 2017

Hayley L Archer

2

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9 December 2017

Sharon D Whatley

3

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9 December 2017

Alison Kerr

4

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9 December 2017

Angus Clarke

5

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9 December 2017

Rachel Butler

6

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9 December 2017

publication date

1 January 2005

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European Journal of Human Genetics

9 December 2017

published in

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9 December 2017

volume

13

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9 December 2017

issue

1

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9 December 2017

page(s)

124-126

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

9 December 2017

cites work

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

Guidelines for reporting clinical features in cases with MECP2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201270

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5201270

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Dimensions Publication ID

9 December 2017

1011344419

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