(Q44519563)

English

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

scientific article published in August 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Carolina Soler-Botija

3

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Europe PubMed Central

PubMed publication ID

3 December 2017

author name string

Eva López

2

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

María Jesús Barceló

4

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Montserrat Baiget

5

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Eduardo F Tizzano

6

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

publication date

1 August 2003

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

22

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Europe PubMed Central

PubMed publication ID

3 December 2017

2

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Europe PubMed Central

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3 December 2017

136-143

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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/10.1002%2FHUMU.10245

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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/10.1002%2FHUMU.10245

21 January 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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/10.1002%2FHUMU.10245

21 January 2018

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Tudor domains in proteins that interact with RNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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/10.1002%2FHUMU.10245

21 January 2018

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

21 January 2018

When is a deletion not a deletion? When it is converted

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10245

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10245

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

ResearchGate publication ID

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