Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT). (Q40948398)

25 September 2017

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT). (English)

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25 September 2017

2

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25 September 2017

U R Monani

1

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PubMed ID

10366716

25 September 2017

A H Burghes

series ordinal

3

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25 September 2017

1 June 1999

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Biochimica et Biophysica Acta

25 September 2017

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25 September 2017

1445

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25 September 2017

3

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25 September 2017

330-336

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The genetic component in child mortality

25 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Classification of spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Structure and organization of the human survival motor neurone (SMN) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Embryonic mouse spinal cord motor neuron hybrid cells

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Molecular variation of the human angiotensinogen core promoter element located between the TATA box and transcription initiation site affects its transcriptional activity

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Functional analysis of the Huntington's disease (HD) gene promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

Expression study of survival motor neuron gene in human fetal tissues.

1 reference

https://api.crossref.org/works/10.1016%2FS0167-4781%2899%2900060-3

7 January 2021

10.1016/S0167-4781(99)00060-3

Identifiers

DOI

1 reference

25 September 2017

1 reference

PubMed ID

10366716