Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia (Q33592204)

28 July 2017

title

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia (English)

1 reference

28 July 2017

2

D L Rimoin

1 reference

28 July 2017

G E Tiller

1

1 reference

28 July 2017

L W Murray

series ordinal

3

1 reference

28 July 2017

D H Cohn

series ordinal

4

1 reference

28 July 2017

language of work or name

English

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publication date

1 May 1990

1 reference

Proceedings of the National Academy of Sciences of the United States of America

28 July 2017

published in

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28 July 2017

volume

87

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28 July 2017

issue

10

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28 July 2017

page(s)

3889-3893

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Isolation and partial characterization of a new human collagen with an extended triple-helical structural domain

28 July 2017

cites work

1 reference

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21 June 2018

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21 June 2018

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Structurally Distinct Collagen Types

21 June 2018

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 June 2018

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Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

21 June 2018

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Identification and characterization of the human type II collagen gene (COL2A1)

21 June 2018

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Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity

21 June 2018

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Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

21 June 2018

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21 June 2018

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Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen

21 June 2018

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Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

21 June 2018

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Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene

21 June 2018

1 reference

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Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

21 June 2018

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The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen

21 June 2018

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Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

21 June 2018

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Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

21 June 2018

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A PCR artifact: generation of heteroduplexes

21 June 2018

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Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

21 June 2018

1 reference

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Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

21 June 2018

1 reference

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 June 2018

1 reference

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Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

21 June 2018

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 June 2018

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DNA sequencing with chain-terminating inhibitors

21 June 2018

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Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

21 June 2018

1 reference

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The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp.

28 July 2018

1 reference

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Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

30 October 2018

1 reference

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Evolution of chick type I procollagen genes

30 October 2018

1 reference

12 December 2020

Isolation and characterization of the human fibrillar collagen genes

1 reference

12 December 2020

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

12 December 2020

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta

1 reference

12 December 2020

Abnormal type II collagen in the spondyloepiphyseal dysplasias

1 reference

12 December 2020

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.87.10.3889

1 reference

28 July 2017

0 references

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28 July 2017

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