(Q49045162)

18 February 2018

title

Czech dysplasia metatarsal type: another type II collagen disorder (English)

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18 February 2018

Czech dysplasia, metatarsal type

main subject

Czech Republic

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author

Geert Mortier

9

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18 February 2018

author name string

Kristien P Hoornaert

1

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18 February 2018

Ivo Marik

2

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18 February 2018

Kazimierz Kozlowski

3

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18 February 2018

Trevor Cole

4

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18 February 2018

Martine Le Merrer

5

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18 February 2018

Jules G Leroy

6

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18 February 2018

Paul J Coucke

7

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18 February 2018

David Sillence

8

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18 February 2018

publication date

29 August 2007

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18 February 2018

European Journal of Human Genetics

published in

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18 February 2018

volume

15

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18 February 2018

issue

12

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18 February 2018

page(s)

1269-1275

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18 February 2018

Czech dysplasia metatarsal type.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201913

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

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Albright's hereditary osteodystrophy: a review

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Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

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Prediction of collagen stability from amino acid sequence

21 January 2018

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Thermostability gradient in the collagen triple helix reveals its multi-domain structure

21 January 2018

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Spondyloperipheral dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201913

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

21 January 2018

1 reference

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Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

21 January 2018

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The phenotypic spectrum of COL2A1 mutations

21 January 2018

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Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

21 January 2018

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Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

21 January 2018

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Building collagen molecules, fibrils, and suprafibrillar structures.

21 January 2018

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Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

21 January 2018

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Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

21 January 2018

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Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

21 January 2018

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Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic

21 January 2018

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7 January 2021

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/10.1038%2FSJ.EJHG.5201913

7 January 2021

Collagen model peptides: Sequence dependence of triple-helix stability

1 reference

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Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils

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7 January 2021

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201913

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18 February 2018

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18 February 2018