(Q77764785)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

M Deere

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

T Sanford

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

H L Ferguson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

K Daniels

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

J T Hecht

5

1 reference

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8 December 2019

publication date

1 December 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

8 December 2019

published in

1 reference

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8 December 2019

volume

80

1 reference

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8 December 2019

page(s)

510-513

1 reference

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8 December 2019

issue

5

1 reference

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Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Cartilage oligomeric matrix protein (COMP) is an abundant component of tendon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Identification of a high-molecular-weight (> 400 000) protein in hyaline cartilage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Gonadal mosaicism in pseudoachondroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Linkage of typical pseudoachondroplasia to chromosome 19

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

The distribution of cartilage oligomeric matrix protein (COMP) in tendon and its variation with tendon site, age and load

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981228%2980%3A5%3C510%3A%3AAID-AJMG14%3E3.0.CO%3B2-F

10.1002/(SICI)1096-8628(19981228)80:5<510::AID-AJMG14>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9880218%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference