(Q24680118)

English

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

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The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease (English)

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Werdnig–Hoffmann disease

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based on heuristic

inferred from title

6

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8

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2

object named as

T Seroz

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9

object named as

J Melki

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author name string

L Bürglen

1

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P Miniou

3

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S Lefebvre

4

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P Burlet

5

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E V Pequignot

7

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language of work or name

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publication date

January 1997

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American Journal of Human Genetics

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60

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72-9

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1

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p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

Deletion mapping of human chromosome 5 using chromosome-specific DNA probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

A provisional transcript map of the spinal muscular atrophy (SMA) critical region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

7 April 2017

TFIIH: a key component in multiple DNA transactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

28 September 2017

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

28 September 2017

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

28 September 2017

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

28 September 2017

A hungarian study on Werdnig-Hoffmann disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

28 September 2017

Gene deletions in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

30 May 2018

Complementation of the xeroderma pigmentosum DNA repair defect in cell-free extracts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712562

19 June 2018

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and interaction properties of the human RNA polymerase B(II) general transcription factor BTF2

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA repair. Engagement with transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981949

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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