(Q77922267)

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An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta

scientific article published on 01 December 1998

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scholarly article

1 reference

Europe PubMed Central

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9 December 2019

An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9923651%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

osteogenesis imperfecta

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author name string

A Forlino

1

1 reference

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9 December 2019

D R Keene

2

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9 December 2019

K Schmidt

3

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9 December 2019

J C Marini

4

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9 December 2019

publication date

1 December 1998

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9 December 2019

1 reference

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9 December 2019

17

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9 December 2019

8-9

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9 December 2019

575-584

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9 December 2019

Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2990109-3

7 January 2021

based on heuristic

inferred from DOI database lookup

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2990109-3

7 January 2021

based on heuristic

inferred from DOI database lookup

The structure of fibril-forming collagens

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2990109-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2990109-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2990109-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0945-053X(98)90109-3

1 reference

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9 December 2019

1 reference

Europe PubMed Central

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9 December 2019

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