Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. (Q35199993)

7 August 2017

title

Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. (English)

1 reference

7 August 2017

main subject

Ehlers-Danlos syndrome

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author name string

Dembure PP

1

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7 August 2017

Priest JH

2

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7 August 2017

Snoddy SC

3

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7 August 2017

Elsas LJ

4

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7 August 2017

language of work or name

English

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publication date

1 July 1984

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

36

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7 August 2017

issue

4

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7 August 2017

page(s)

783-790

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Protein measurement with the Folin phenol reagent

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

Molecular defects of collagen metabolism in the Ehlers-Danlos syndrome

13 July 2018

1 reference

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Ehlers-Danlos syndrome during pregnancy: a case report and review of the literature.

13 July 2018

1 reference

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Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

13 July 2018

1 reference

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Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

13 July 2018

1 reference

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Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient 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=1684485

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

13 July 2018

1 reference

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Differentiation in human amniotic fluid cell cultures: I: Collagen production

13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response

13 July 2018

1 reference

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Ascorbate Action on Normal and Mutant Human Lysyl Hydroxylases from Cultured Dermal Fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

Collagen synthesis by human amniotic fluid cells in culture: characterization of a procollagen with three identical proα1(I) chains

13 July 2018

1 reference

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Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient 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=1684485

Modification of the tritium-release assays for prolyl and lysyl hydroxylases using Dowex-50 columns

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

A Heritable Disorder of Connective Tissue

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684485

Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity

26 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis

1 reference

12 December 2020

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts

1 reference

12 December 2020

Identifiers

PMC publication ID

1684485

1 reference

7 August 2017

1 reference