(Q46491820)

22 December 2017

title

The phenotypic spectrum of COL2A1 mutations (English)

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22 December 2017

author name string

Gen Nishimura

1

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22 December 2017

Nobuhiko Haga

2

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22 December 2017

Hiroshi Kitoh

3

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22 December 2017

Yoko Tanaka

4

1 reference

22 December 2017

Toru Sonoda

5

1 reference

22 December 2017

Miho Kitamura

6

1 reference

22 December 2017

Shuya Shirahama

7

1 reference

22 December 2017

Taichi Itoh

8

1 reference

22 December 2017

Eiji Nakashima

9

1 reference

22 December 2017

Hirofumi Ohashi

10

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22 December 2017

Shiro Ikegawa

11

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22 December 2017

publication date

1 July 2005

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22 December 2017

published in

Human Mutation

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22 December 2017

volume

26

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22 December 2017

issue

1

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22 December 2017

page(s)

36-43

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22 December 2017

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

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%2FHUMU.20179

7 January 2021

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

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%2FHUMU.20179

7 January 2021

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Small deletions in the type II collagen triple helix produce Kniest dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

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.20179

7 January 2021

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Two clinical variants of spondylo-epiphysial dysplasia congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20179

7 January 2021

Identifiers

DOI

10.1002/HUMU.20179

1 reference

22 December 2017

release_eafv7egfwbadjnfxx2wz7t3j74

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/eafv7egfwbadjnfxx2wz7t3j74

24 November 2022

mapped directly with Wikidata item

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22 December 2017