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English
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
scientific article published in April 2004
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
title
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
author
Shuji Ogino
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
author name string
Robert B Wilson
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
publication date
1 April 2004
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
volume
23
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
page(s)
392-393
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
cites work
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/10.1002%2FHUMU.20013
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/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Standardizing mutation nomenclature: why bother?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinal muscular atrophy: molecular genetics and diagnostics.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20013
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20013
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
PubMed ID
15024734
1 reference
stated in
Europe PubMed Central
PubMed ID
15024734
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15024734%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
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