(Q42666332)

4 November 2017

Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). (English)

1 reference

4 November 2017

isolated ectopia lentis

1 reference

1 reference

Jun-Hong Zhao

1

1 reference

4 November 2017

Tian-Bo Jin

2

1 reference

4 November 2017

Qing-Bo Liu

3

1 reference

4 November 2017

Chao Chen

4

1 reference

4 November 2017

Hai-Tao Hu

5

1 reference

4 November 2017

6 September 2012

1 reference

4 November 2017

1 reference

4 November 2017

34

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4 November 2017

1-2

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4 November 2017

21-26

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

4 November 2017

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Ectopia lentis et pupillae syndrome in three generations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Flow of aqueous humor in the canal of Schlemm

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.718029

10.3109/13816810.2012.718029

21 January 2018

Identifiers

DOI

1 reference

release_hxosxmgqsrcuxjypffqk2nquym

4 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hxosxmgqsrcuxjypffqk2nquym

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference