(Q28213329)

1

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Elizabeth A Putnam

2

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Sonya G Carmical

3

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Ilkka Kaitila

4

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Beat Steinmann

5

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Anne Child

6

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Cesare Danesino

7

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Kay Metcalfe

8

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Susan A Berry

9

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Emily Chen

10

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Catherine Vincent Delorme

11

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Meow-Keong Thong

12

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Lesley C Adès

13

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Dianna M Milewicz

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

14

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language of work or name

English

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publication date

January 2002

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published in

Human Mutation

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volume

19

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issue

1

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page(s)

39-48

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Hereditary dysplasia of bone with kyphoscoliosis,contractures, and abnormally shaped ears

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Key residues involved in calcium-binding motifs in EGF-like domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

The fibrillin-Marfan syndrome connection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Congenital contractural arachnodactyly (Beals syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Congenital contractural arachnodactyly. Report of four additional families and review of literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10017

7 January 2021