(Q24337825)

English

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

scientific article published on March 15, 1991

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scholarly article

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G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV (English)

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Ehlers-Danlos syndrome

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1 reference

based on heuristic

inferred from title

Collagen type III alpha 1 chain

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GOA release 2020-03-11

collagen fibril organization

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GOA release 2020-03-11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

author name string

B. Lee

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

E. Vitale

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

A. Superti-Furga

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

B. Steinmann

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

F. Ramirez

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

language of work or name

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publication date

15 March 1991

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full work available at URL

http://intl.jbc.org/cgi/content/abstract/266/8/5256

online access status

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672129

25 October 2022

https://api.elsevier.com/content/article/PII:S002192581967780X?httpAccept=text/xml

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

https://api.elsevier.com/content/article/PII:S002192581967780X?httpAccept=text/plain

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

Journal of Biological Chemistry

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266

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8

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5256-9

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Patients with Ehlers-Danlos syndrome type IV lack type III collagen

2

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

5

1 reference

10.1016/S0021-9258(19)67780-X

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25 October 2022

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

7

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).

9

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen

10

1 reference

10.1016/S0021-9258(19)67780-X

https://api.crossref.org/works/10.1016/S0021-9258(19)67780-X

25 October 2022

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

11

1 reference

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25 October 2022

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

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25 October 2022

Modulation of Type I and Type III Collagen Production in Normal and Mutant Human Skin Fibroblasts by Cell Density, Prostaglandin E2 and Epidermal Growth Factor

18

1 reference

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25 October 2022

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

19

1 reference

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25 October 2022

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

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25 October 2022

Dideoxy sequencing method using denatured plasmid templates

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25 October 2022

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

25

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25 October 2022

SV40-transformed simian cells support the replication of early SV40 mutants

28

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25 October 2022

The family of collagen genes

30

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25 October 2022

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

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25 October 2022

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