(Q35197292)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741952%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

title

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias (English)

1 reference

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4 October 2019

4

D L Rimoin

1 reference

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4 October 2019

author name string

L W Murray

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741952%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

J Bautista

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741952%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

P L James

series ordinal

3

1 reference

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4 October 2019

language of work or name

English

0 references

publication date

1 July 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741952%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 October 2019

published in

1 reference

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4 October 2019

volume

45

1 reference

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4 October 2019

issue

1

1 reference

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4 October 2019

page(s)

5-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741952%20AND%20SRC:MED&resulttype=core&format=json

Isolation and partial characterization of a new human collagen with an extended triple-helical structural domain

4 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Analysis of cyanogen bromide peptides of type I collagen from a patient with lethal osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Heritable diseases of collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Isolation and characterization of the cyanogen bromide peptides from the αl(II) chain of bovine and human cartilage collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Biosynthesis of cartilage collagen. Use of pulse labeling to order the cyanogen bromide peptides in the alpha L(II) chain.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Spondyloepiphyseal dysplasias

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Morphologic studies in the skeletal dysplasias

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Collagen heterogeneity in human cartilage: Identification of several new collagen chains

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683381

Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple-helical domain

26 September 2018

1 reference

12 December 2020

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

12 December 2020

Spondyloepiphyseal Dysplasia Congenita

1 reference

12 December 2020

Difficulties in the classification of the epiphyseal dysplasias

1 reference

12 December 2020

The covalent structure of cartilage collagen. Amino acid sequence of the NH2-terminal helical portion of the alpha 1 (II) chain

1 reference

12 December 2020

Characterization of collagen hydroxylysyl glycosyltransferases as mainly intramembranous microsomal enzymes

1 reference

12 December 2020

Osteogenesis imperfecta: update and perspective

1 reference

12 December 2020

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

12 December 2020

Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen

1 reference

12 December 2020

Disorder of collagen metabolism in a patient with osteogenesis imperfecta (lethal type): increased degree of hydroxylation of lysine in collagen types I and III

1 reference

12 December 2020

Formation of the triple helix of type I procollagen in cellulo. A kinetic model based on cis-trans isomerization of peptide bonds

1 reference

12 December 2020

Chain assembly intermediate in the biosynthesis of type III procollagen in chick embryo blood vessels

1 reference

12 December 2020

10 Posttranslational enzymes in the biosynthesis of collagen: Intracellular enzymes

1 reference

12 December 2020

Spondylometepiphyseal dysplasia, Strudwick type

1 reference

12 December 2020

Identification of collagen chains as a function of cyanogen bromide peptide patterns using gel permeation high-performance liquid chromatography

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741952%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

1 reference