(Q48923056)

16 February 2018

title

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany. (English)

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16 February 2018

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5

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16 February 2018

author name string

Bergmann C

1

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16 February 2018

Schröder JM

2

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16 February 2018

Rudnik-Schöneborn S

3

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16 February 2018

Zerres K

4

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16 February 2018

publication date

1 March 2001

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16 February 2018

published in

Molecular Brain Research

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16 February 2018

volume

88

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16 February 2018

issue

1-2

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16 February 2018

page(s)

183-185

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16 February 2018

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

An A/G polymorphism in the promoter of mitochondrial aldehyde dehydrogenase (ALDH2): effects of the sequence variant on transcription factor binding and promoter strength

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Gap junctions in the brain: where, what type, how many and why?

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

A 4-Mb high-density single nucleotide polymorphism-based map around human APOE

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

The human connexin32 gene is transcribed from two tissue-specific promoters

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Use of alternate promoters for tissue-specific expression of the gene coding for connexin32

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Enhanced expression of the leukotriene C(4) synthase due to overactive transcription of an allelic variant associated with aspirin-intolerant asthma

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Worldwide distribution of a common methylenetetrahydrofolate reductase mutation

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

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https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

5' flanking region polymorphism of the gene encoding leukotriene C4 synthase does not correlate with the aspirin-intolerant asthma phenotype in the United States

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2801%2900040-7

7 January 2021

10.1016/S0169-328X(01)00040-7

Identifiers

DOI

1 reference

16 February 2018

1 reference

16 February 2018