(Q72033676)

English

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia

scientific article published on 01 January 1994

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019561%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019561%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

Ritvaniemi P

1

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23 October 2019

Sokolov BP

2

1 reference

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23 October 2019

Williams CJ

3

1 reference

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23 October 2019

Considine E

4

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23 October 2019

Yurgenev L

5

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23 October 2019

Meerson EM

6

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23 October 2019

Ala-Kokko L

7

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23 October 2019

Prockop DJ

8

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23 October 2019

publication date

1 January 1994

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23 October 2019

1 reference

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23 October 2019

3

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23 October 2019

3

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23 October 2019

261-267

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23 October 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%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Kniest dysplasia: a probable type II collagen defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

PCR detection of a HindIII polymorphism in the human gene for type II procollagen (COL2A1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030314

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380030314

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019561%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8019561%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

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