Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation (Q48386091)

11 February 2018

title

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation (English)

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

3 August 2023

main subject

osteogenesis imperfecta

0 references

molecular cloning

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6092353

3 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

3 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

3 August 2023

author name string

T. Pihlajaniemi

1

1 reference

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3 August 2023

L. A. Dickson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6092353

3 August 2023

F. M. Pope

3

1 reference

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3 August 2023

V. R. Korhonen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6092353

3 August 2023

A. Nicholls

5

1 reference

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3 August 2023

D. J. Prockop

6

1 reference

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3 August 2023

J. C. Myers

7

1 reference

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3 August 2023

publication date

1 November 1984

1 reference

11 February 2018

10 November 1984

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6092353

http://intl.jbc.org/cgi/content/abstract/259/21/12941

3 August 2023

language of work or name

English

0 references

work available at URL

online access status

open access

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https://api.elsevier.com/content/article/PII:S0021925818906356?httpAccept=text/xml

3 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

https://api.elsevier.com/content/article/PII:S0021925818906356?httpAccept=text/plain

3 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Journal of Biological Chemistry

3 August 2023

published in

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11 February 2018

volume

259

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11 February 2018

issue

21

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11 February 2018

page(s)

12941-12944

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11 February 2018

Structurally Distinct Collagen Types

cites work

1

1 reference

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Advances in human genetics

3 August 2023

2

12

1

Hollister

1982

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Heritable diseases of collagen

3 August 2023

3

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Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta

3 August 2023

4

1 reference

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Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

3 August 2023

5

1 reference

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Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta

3 August 2023

6

1 reference

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3 August 2023

Journal of Cell Biology

9

97

229a

Sippola

1983

1 reference

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Marfan syndrome: abnormal alpha 2 chain in type I collagen

3 August 2023

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Cloning a cDNA for the pro-alpha 2 chain of human type I collagen

3 August 2023

12

1 reference

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Cloning and characterization of five overlapping cDNAs specific for the human proα 1(I) collagen chain

3 August 2023

13

1 reference

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Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta

3 August 2023

16

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Genetic analysis of familial isolated growth hormone deficiency type I

3 August 2023

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A DNA insertion in the apolipoprotein A-I gene of patients with premature atherosclerosis

3 August 2023

18

1 reference

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The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

3 August 2023

22

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta

3 August 2023

24

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose

3 August 2023

25

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Analysis of gene control signals by DNA fusion and cloning in Escherichia coli

3 August 2023

27

1 reference

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57 Sequencing end-labeled DNA with base-specific chemical cleavages

3 August 2023

28

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Sequence determination and analysis of the 3' region of chicken pro-alpha 1(I) and pro-alpha 2(I) collagen messenger ribonucleic acids including the carboxy-terminal propeptide sequences

3 August 2023

30

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene

3 August 2023

31

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution

3 August 2023

32

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

A conserved nucleotide sequence, coding for a segment of the C-propeptide, is found at the same location in different collagen genes

3 August 2023

33

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https://api.crossref.org/works/10.1016/S0021-9258(18)90635-6

3 August 2023

Identifiers

1 reference

11 February 2018