(Q35201295)

7 August 2017

title

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. (English)

1 reference

7 August 2017

main subject

osteogenesis imperfecta

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3

P Wordsworth

1 reference

7 August 2017

B Sykes

1

1 reference

7 August 2017

D Ogilvie

2

1 reference

7 August 2017

G Wallis

4

1 reference

7 August 2017

C Mathew

5

1 reference

7 August 2017

P Beighton

6

1 reference

7 August 2017

A Nicholls

7

1 reference

7 August 2017

F M Pope

8

1 reference

7 August 2017

E Thompson

9

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7 August 2017

P Tsipouras

10

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7 August 2017

language of work or name

English

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publication date

1 February 1990

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

46

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7 August 2017

issue

2

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7 August 2017

page(s)

293-307

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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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Hypervariable 'minisatellite' regions in human DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

The number of families required to detect or exclude linkage heterogeneity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

An RFLP close to the human collagen I gene COL1A1.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Genetic heterogeneity in osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684971

Homozygous osteogenesis imperfecta unlinked to collagen I genes

13 July 2018

1 reference

12 December 2020

DNA polymorphisms in collagen genes: potential use in the study of disease

1 reference

12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

12 December 2020

Altered relation of two collagen types in osteogenesis imperfecta

1 reference

12 December 2020

Identifiers

PMC publication ID

1684971

1 reference

7 August 2017

1 reference