(Q72131315)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705841%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705841%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

A Winterpacht

1

1 reference

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24 October 2019

K Hilbert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705841%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

U Schwarze

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705841%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

B Zabel

4

1 reference

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24 October 2019

publication date

1 April 1995

1 reference

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24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705841%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

95

1 reference

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24 October 2019

issue

4

1 reference

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24 October 2019

page(s)

437-439

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00208971

24 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes

1 reference

12 December 2020

Reduction of background problems in nonradioactive northern and Southern blot analyses enables higher sensitivity than 32P-based hybridizations

1 reference

12 December 2020

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

Nonisotopic SSCP detection in PCR products by ethidium bromide staining

1 reference

12 December 2020

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

1 reference

12 December 2020

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

1 reference

12 December 2020

The rapid detection of unknown mutations in nucleic acids.

1 reference

12 December 2020

The type II collagenopathies: a spectrum of chondrodysplasias

1 reference

12 December 2020

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

1 reference

12 December 2020

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

1 reference

12 December 2020

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

1 reference

12 December 2020

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

1 reference

12 December 2020

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208971

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705841%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference