(Q28139606)

English

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

scientific article (publication date: 27 August 1999)

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scholarly article

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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia (English)

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1 reference

based on heuristic

inferred from title

multiple epiphyseal dysplasia

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based on heuristic

inferred from title

author name string

M Deere

1

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T Sanford

2

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C A Francomano

3

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K Daniels

4

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J T Hecht

5

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language of work or name

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publication date

27 August 1999

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American Journal of Medical Genetics Part A

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85

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486-90

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5

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

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https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

Gonadal mosaicism in pseudoachondroplasia.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

Linkage of typical pseudoachondroplasia to chromosome 19

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C486%3A%3AAID-AJMG10%3E3.0.CO%3B2-O

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O

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