(Q41762531)

English

Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.

scientific article published on May 1997

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD. (English)

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Huntington's disease

0 references

author name string

R Coles

1

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

J Leggo

2

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

D C Rubinsztein

3

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

language of work or name

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publication date

1 May 1997

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Journal of Medical Genetics

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Europe PubMed Central

PMC publication ID

9 October 2017

34

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

5

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

371-374

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Huntington disease: new insights into the relationship between CAG expansion and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Polymorphism in the upstream regulatory regions of HLA-DRB genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

The regulatory complex of HLA class I promoters exhibits locus-specific conservation with limited allelic variation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Molecular analysis of late onset Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Arginine residues at codons 112 and 158 in the apolipoprotein E gene correspond to the ancestral state in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

DNase I hypersensitivity mapping and promoter polymorphism analysis of human C4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Sequence polymorphism in the HLA-B promoter region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Allelic polymorphism in transcriptional regulatory regions of HLA-DQB genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Low nucleotide diversity in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Compilation of vertebrate-encoded transcription factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

6 June 2018

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

18 August 2018

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

18 August 2018

Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050943

18 August 2018

Demonstration of sequence variations in the promoter region of the human cystatin C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9152833

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1 reference

https://pubmed.ncbi.nlm.nih.gov/9152833

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.5.371

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

release_6qwjnajynrathotr3ezec4xgmq

1 reference

https://api.fatcat.wiki/v0/release/6qwjnajynrathotr3ezec4xgmq

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

ResearchGate publication ID

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