(Q33931508)

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Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

osteogenesis imperfecta

0 references

author name string

Grobler-Rabie AF

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Wallis G

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Brebner DK

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Beighton P

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Bester AJ

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Mathew CG

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

0 references

publication date

1 July 1985

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

The EMBO Journal

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1745-1748

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Human type I procollagen genes are located on different chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Cloning a cDNA for the pro-alpha 2 chain of human type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Heritable diseases of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Blot hybridisation analysis of genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

5 July 2018

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=554412

29 October 2018

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2992938

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2992938

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the human 2(I) collagen gene (COL1A2) to chromosome 7q22

1 reference

https://pubmed.ncbi.nlm.nih.gov/2992938

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and Characterization of a Human Pro α2(I) Collagen Gene Segment

1 reference

https://pubmed.ncbi.nlm.nih.gov/2992938

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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