(Q28302010)

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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

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scholarly article

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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 (English)

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platyspondylic lethal skeletal dysplasia, Torrance type

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10

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Andrea Superti-Furga

13

object named as

Andrea Superti-Furga

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object named as

Geert Mortier

6

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7

object named as

Heymut Omran

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Luitgard Graul-Neumann

2

object named as

Luitgard Neumann

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author name string

Andreas Zankl

1

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Jaako Ignatius

3

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Peter Nikkels

4

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Connie Schrander-Stumpel

5

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Michael Wright

8

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Katja Hilbert

9

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Juergen Spranger

11

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Bernhard Zabel

12

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language of work or name

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publication date

15 February 2005

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American Journal of Medical Genetics Part A

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133A

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61-7

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1

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Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

The effect of carboxyl-terminal propeptide of type I collagen (c-propeptide) on collagen synthesis of preosteoblasts and osteoblasts

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30531

21 January 2018

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