(Q71339787)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8737653%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred (English)

1 reference

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18 October 2019

1 reference

Williams CJ

1

1 reference

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18 October 2019

Ganguly A

2

1 reference

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18 October 2019

Considine E

3

1 reference

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18 October 2019

McCarron S

4

1 reference

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18 October 2019

Prockop DJ

5

1 reference

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18 October 2019

Walsh-Vockley C

6

1 reference

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18 October 2019

Michels VV

7

1 reference

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18 October 2019

publication date

1 June 1996

1 reference

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American Journal of Medical Genetics Part A

18 October 2019

published in

1 reference

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18 October 2019

volume

63

1 reference

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18 October 2019

issue

3

1 reference

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18 October 2019

page(s)

461-467

1 reference

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

18 October 2019

cites work

1 reference

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Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens

21 January 2018

1 reference

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5 Kilo-sequencing: Creation of an ordered nest of asymmetric deletions across a large target sequence carried on phage M13

21 January 2018

1 reference

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Procollagen II Gene Mutation in Stickler Syndrome

21 January 2018

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A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

21 January 2018

1 reference

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Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

21 January 2018

1 reference

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

1 reference

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Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

21 January 2018

1 reference

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Heritable diseases of collagen

21 January 2018

1 reference

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A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

21 January 2018

1 reference

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

21 January 2018

1 reference

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DNA sequencing with chain-terminating inhibitors

21 January 2018

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Type II collagen mutations in rare and common cartilage diseases

21 January 2018

1 reference

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

21 January 2018

1 reference

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Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA

21 January 2018

1 reference

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Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

21 January 2018

1 reference

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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U

21 January 2018

Identifiers

DOI

0 references

1 reference