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Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
title
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
author
Eero I Vuorio
series ordinal
6
object named as
E Vuorio
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
author name string
K Elima
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
I Kaitila
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
L Mikonoja
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
U Elonsalo
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
L Peltonen
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
language of work or name
English
0 references
publication date
1 May 1989
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
volume
26
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
page(s)
314-319
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
cites work
Analysis of three restriction fragment length polymorphisms in the human type II procollagen 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=1015598
retrieved
21 June 2018
Strategies for multilocus linkage analysis in humans
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=1015598
retrieved
21 June 2018
Pathogenic mechanisms in osteochondrodysplasias
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=1015598
retrieved
21 June 2018
Isolation and characterization of genomic clones corresponding to the human type II procollagen 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=1015598
retrieved
21 June 2018
Heritable diseases of collagen
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=1015598
retrieved
21 June 2018
Comparative electron-microscope studies on the collagens extracted from cartilage, bone, and skin
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=1015598
retrieved
21 June 2018
Identification and characterization of the human type II collagen gene (COL2A1)
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=1015598
retrieved
21 June 2018
Connective tissue diseases: mutations of collagen genes.
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=1015598
retrieved
21 June 2018
A primary genetic linkage map for human chromosome 12.
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=1015598
retrieved
21 June 2018
Isolation and partial characterization of the entire human pro alpha 1(II) collagen 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=1015598
retrieved
21 June 2018
Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias
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=1015598
retrieved
21 June 2018
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen
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=1015598
retrieved
21 June 2018
Isolation and mapping of a polymorphic DNA sequence pEFD33.2 on chromosome 12 [D12S14]
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=1015598
retrieved
21 June 2018
The phenotypic variability of diastrophic dysplasia
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=1015598
retrieved
21 June 2018
DIASTROPHIC DWARFISM
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2732992
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2732992
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Structure of the type II collagen gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2732992
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Polymorphic restriction sites of type II collagen gene: their location and frequencies in the Finnish population
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2732992
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.26.5.314
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
PMC publication ID
1015598
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
PubMed publication ID
2732992
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015598
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2732992%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 October 2019
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