(Q57197832)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

main subject

osteogenesis imperfecta

0 references

author

Peter H. Byers

3

1 reference

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27 October 2019

Raymond Dalgleish

4

1 reference

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27 October 2019

author name string

N J Rose

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

K Mackay

2

1 reference

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27 October 2019

publication date

1 February 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

95

1 reference

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27 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

215-218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00209405

27 October 2019

exact match

0 references

cites work

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

1 reference

12 December 2020

A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta

1 reference

12 December 2020

RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta

1 reference

12 December 2020

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

1 reference

12 December 2020

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the triple helix

1 reference

12 December 2020

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain

1 reference

12 December 2020

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

12 December 2020

Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta

1 reference

12 December 2020

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00209405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860070%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference