(Q40936499)

English

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

scientific article published on September 1999

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Stilianos Antonarakis

3

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

author name string

Lalioti MD

1

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Scott HS

2

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

language of work or name

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publication date

1 September 1999

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

1791-1798

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Isolation and characterization of the mouse cystatin B gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

AP-1 function and regulation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

RNA polymerase II transcription initiation: a structural view

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Chromatin structure and RNA polymerase II connection: implications for transcription

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Cosmid assembly and anchoring to human chromosome 21.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Improved tools for biological sequence comparison

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1791

21 January 2018

Identifiers

10.1093/HMG/8.9.1791

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

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