(Q52477257)

English

Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.

scientific article published in January 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch. (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

osteogenesis imperfecta

0 references

John F. Bateman

1

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

author name string

Moeller I

2

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

Hannagan M

3

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

Chan D

4

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

Cole WG

5

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

publication date

1 January 1992

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

1

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

1

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

55-62

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Collagen defects in lethal perinatal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010109

21 January 2018

Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis

1 reference

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21 January 2018

Induction of metallothionein mRNA in rat liver and kidney after copper chloride injection

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21 January 2018

Sequence specific thermal stability of the collagen triple helix

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Comprehensive analysis of collagen metabolism in vitro using [4(3H)]/[14C]proline dual-labeling and polyacrylamide gel electrophoresis

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7 January 2021

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Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

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A Film Detection Method for Tritium-Labelled Proteins and Nucleic Acids in Polyacrylamide Gels

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Proteolytic enzymes as probes for the triple-helical conformation of procollagen

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Hydroxyproline content and location in relation to collagen thermal stability

1 reference

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Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

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Osteogenesis imperfecta

1 reference

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A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

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7 January 2021

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

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7 January 2021

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Detection and localization of base changes in RNA using a chemical cleavage method

1 reference

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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

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Biological detection of specific mRNA molecules by microinjection

1 reference

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7 January 2021

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Heritable diseases of collagen

1 reference

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7 January 2021

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The Cyanogen Bromide Peptides of Bovine Soluble and Insoluble Collagens: I. Characterization of Peptides from Soluble Type I Collagen by Sodium Dodecylsulphate Polyacrylamide Gel Electrophoresis

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010109

7 January 2021

based on heuristic

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Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010109

7 January 2021

based on heuristic

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The family of collagen genes

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Identifiers

10.1002/HUMU.1380010109

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 May 2018

http://europepmc.org/abstract/MED/1284475

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