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Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
title
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
author
Andrew Green
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
author name string
J B Ali
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
T Sepp
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
S Ward
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
J R Yates
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
language of work or name
English
0 references
publication date
1 December 1998
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
volume
35
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
page(s)
969-972
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
issue
12
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
cites work
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Loss of heterozygosity in tuberous sclerosis hamartomas.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Mutation analysis of the TSC2 gene in an African-American family.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Evidence that the gene for tuberous sclerosis is on chromosome 9
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
21 June 2018
Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
30 October 2018
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
30 October 2018
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
30 October 2018
A de novo frame-shift mutation in the tuberin gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051505
retrieved
30 October 2018
Epidemiology of tuberous sclerosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9863590
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9863590
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9863590
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.35.12.969
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
PMCID
1051505
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
PubMed ID
9863590
1 reference
stated in
Europe PubMed Central
PMCID
1051505
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9863590%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 December 2019
ResearchGate publication ID
13423689
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