(Q49086571)

18 February 2018

title

Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome (English)

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18 February 2018

author name string

Krishna Kumar Singh

1

1 reference

18 February 2018

Praphulla Chandra Shukla

2

1 reference

18 February 2018

Kathrin Rommel

3

1 reference

18 February 2018

Jörg Schmidtke

4

1 reference

18 February 2018

Mine Arslan-Kirchner

5

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18 February 2018

publication date

12 April 2006

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18 February 2018

European Journal of Human Genetics

published in

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18 February 2018

volume

14

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18 February 2018

issue

7

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18 February 2018

page(s)

876-879

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18 February 2018

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Revised genomic organization of FBN1 and significance for regulated gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Molecular genetics of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Heterozygous TGFBR2 mutations in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

Revised diagnostic criteria for the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201620

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201620

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18 February 2018

Dimensions Publication ID

1046364730

0 references

1 reference

18 February 2018