(Q67512531)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

main subject

Ehlers-Danlos syndrome

1 reference

1 reference

Hyland J

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Ala-Kokko L

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Royce P

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Steinmann B

4

1 reference

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14 September 2019

Kivirikko KI

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Myllylä R

6

1 reference

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14 September 2019

publication date

1 November 1992

1 reference

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14 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

page(s)

228-231

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1192-228

14 September 2019

exact match

0 references

cites work

Heritable diseases of collagen

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

A Heritable Disorder of Connective Tissue

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Post-translational processing of procollagens

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

10 Posttranslational enzymes in the biosynthesis of collagen: Intracellular enzymes

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Minoxidil specifically decreases the expression of lysine hydroxylase in cultured human skin fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Modification of vertebrate and algal prolyl 4-hydroxylases and vertebrate lysyl hydroxylase by diethyl pyrocarbonate. Evidence for histidine residues in the catalytic site of 2-oxoglutarate-coupled dioxygenases

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

1 reference

https://api.crossref.org/works/10.1038%2FNG1192-228

7 January 2021

Identifiers

DOI

10.1038/NG1192-228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1345174%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference