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English
Differential SMN2 expression associated with SMA severity
scientific article published on 01 November 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
title
Differential SMN2 expression associated with SMA severity
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
author name string
Gavrilov DK
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
Shi X
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
Das K
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
Gilliam TC
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
Wang CH
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
publication date
1 November 1998
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
volume
20
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
page(s)
230-231
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
exact match
https://scigraph.springernature.com/pub.10.1038/3030
0 references
cites work
Identification and characterization of a spinal muscular atrophy-determining gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SMN oligomerization defect correlates with spinal muscular atrophy severity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F3030
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/3030
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
PubMed ID
9806538
1 reference
stated in
Europe PubMed Central
PubMed ID
9806538
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806538%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
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