(Q57197861)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2875936%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2875936%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

main subject

Ehlers-Danlos syndrome

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2875936%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

Guglielmina Pepe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2875936%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

author name string

P Tsipouras

1

1 reference

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6 October 2019

R C Schwartz

3

1 reference

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6 October 2019

M L Chu

4

1 reference

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6 October 2019

D Weil

5

1 reference

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6 October 2019

S B Cassidy

7

1 reference

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6 October 2019

F Ramirez

8

1 reference

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6 October 2019

publication date

1 September 1986

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6 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2875936%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

volume

74

1 reference

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6 October 2019

issue

1

1 reference

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6 October 2019

page(s)

41-46

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00278783

6 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

12 December 2020

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta

1 reference

12 December 2020

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta

1 reference

12 December 2020

Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques

1 reference

12 December 2020

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta

1 reference

12 December 2020

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

1 reference

12 December 2020

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

1 reference

12 December 2020

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

1 reference

12 December 2020

Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s)

1 reference

12 December 2020

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta

1 reference

12 December 2020

Easy calculations of lod scores and genetic risks on small computers

1 reference

12 December 2020

Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene

1 reference

12 December 2020

An RFLP associated with the human type III collagen gene (COL3A1).

1 reference

12 December 2020

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

1 reference

12 December 2020

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

1 reference

12 December 2020

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00278783

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2875936%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference