Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele (Q37395197)

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scientific article published on August 1986

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Language	Label	Description	Also known as
English	Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele	scientific article published on August 1986

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instance of

scholarly article

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Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

title

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

1 reference

stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

main subject

osteogenesis imperfecta

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author name string

D H Cohn

series ordinal

1

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stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

P H Byers

series ordinal

2

1 reference

stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

B Steinmann

series ordinal

3

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stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

R E Gelinas

series ordinal

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

language of work or name

English

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publication date

1 August 1986

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stated in

Europe PubMed Central

PMC publication ID

386434

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20 August 2017

number of pages

3

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published in

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

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stated in

Europe PubMed Central

PMC publication ID

386434

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20 August 2017

volume

83

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stated in

Europe PubMed Central

PMC publication ID

386434

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20 August 2017

issue

16

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stated in

Europe PubMed Central

PMC publication ID

386434

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20 August 2017

page(s)

6045-6047

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stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

cites work

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

A system for shotgun DNA sequencing

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

Genetic heterogeneity in osteogenesis imperfecta

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

DNA sequencing with chain-terminating inhibitors

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

Collagen genes and inherited connective tissue disease

1 reference

stated in

PubMed Central

reference URL

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

retrieved

14 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

26 June 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

26 June 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

26 June 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

3 December 2018

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3016737

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: update and perspective

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3016737

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3016737

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3016737

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3016737

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.83.16.6045

1 reference

stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

ADS bibcode

1986PNAS...83.6045C

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Fatcat ID

release_najozqvhtjc7takdhrg5ugxtym

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stated in

Fatcat

reference URL

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

retrieved

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

386434

1 reference

stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

PubMed publication ID

3016737

1 reference

stated in

Europe PubMed Central

PMC publication ID

386434

retrieved

20 August 2017

ResearchGate publication ID

20139018

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