(Q37395197)

20 August 2017

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

1 reference

20 August 2017

osteogenesis imperfecta

0 references

author name string

D H Cohn

1

1 reference

20 August 2017

P H Byers

2

1 reference

20 August 2017

B Steinmann

3

1 reference

20 August 2017

R E Gelinas

4

1 reference

20 August 2017

language of work or name

English

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publication date

1 August 1986

1 reference

20 August 2017

3

1 reference

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

inferred from page(s)

published in

1 reference

20 August 2017

83

1 reference

20 August 2017

16

1 reference

20 August 2017

6045-6047

1 reference

An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

A system for shotgun DNA sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

The role of cis-trans isomerization of peptide bonds in the coil leads to and comes from triple helix conversion of collagen

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

Genetic heterogeneity in osteogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

DNA sequencing with chain-terminating inhibitors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

Collagen genes and inherited connective tissue disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

Collagen heterogeneity within different growth regions of long bones of rachitic and nonrachitic chicks

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=386434

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

3 December 2018

1 reference

12 December 2020

Osteogenesis imperfecta: update and perspective

1 reference

12 December 2020

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

12 December 2020

DNA and chromatin structure of the human alpha 1 (I) collagen gene

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.83.16.6045

1 reference

release_najozqvhtjc7takdhrg5ugxtym

20 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/najozqvhtjc7takdhrg5ugxtym

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

PubMed publication ID

3016737

1 reference