(Q24546585)

1

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Nina Sausgruber

2

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Katherine H Kim

3

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Brad Angle

4

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Lihua Y Marmorstein

American Journal of Human Genetics

5

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language of work or name

English

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publication date

June 2006

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published in

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volume

78

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page(s)

1075-80

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issue

6

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cites work

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Fibulins: a versatile family of extracellular matrix proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Fibulin-5/DANCE is essential for elastogenesis in vivo

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Fibulins: physiological and disease perspectives.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474103

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16685658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Isolation of genomic DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16685658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/504304

1 reference

release_oufh6dek2jhyxjd4xcpswikici

3752530

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oufh6dek2jhyxjd4xcpswikici

mapped directly with Wikidata item

24 November 2022

based on heuristic

3752530

1 reference

1 reference

1 reference