Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders (Q61633006)

From Wikidata

Jump to navigation Jump to search

scientific article published on 01 January 1998

Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders

Language	Label	Description	Also known as
English	Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders	scientific article published on 01 January 1998	Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders (English)

0 references

Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Valeria Brancolini

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Marcella Devoto

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

Jane F. Bleasel

1

0 references

Daniel Holderbaum

2

0 references

Valeria Brancolini

3

0 references

Roland W. Moskowitz

4

0 references

Eileen L. Considine

5

0 references

Darwin J. Prockop

6

0 references

Marcella Devoto

7

0 references

Charlene J. Williams

8

0 references

Bleasel JF

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Holderbaum D

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Moskowitz RW

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Considine EL

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Prockop DJ

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Williams CJ

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1998

0 references

1 January 1998

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

172-176

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Characterization of the COL2A1 VNTR polymorphism

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Codon usage tabulated from the GenBank genetic sequence data

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Molecular defects in the chondrodysplasias

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A3%3C172%3A%3AAID-HUMU4%3E3.0.CO%3B2-J

21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9711874%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q61633006&oldid=1788948584"