(Q34337855)

1 August 2017

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome (English)

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1 August 2017

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K Kainulainen

1

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1 August 2017

L Karttunen

2

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1 August 2017

L Puhakka

3

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1 August 2017

L Sakai

4

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1 August 2017

L Peltonen

5

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1 August 2017

language of work or name

English

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publication date

1 January 1994

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1 August 2017

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1 August 2017

6

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1 August 2017

64-69

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1 August 2017

1

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https://scigraph.springernature.com/pub.10.1038/ng0194-64

1 August 2017

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cites work

The Marfan Syndrome: Diagnosis and Management

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

21 January 2018

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Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences

21 January 2018

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Assembly of extracellular matrix

21 January 2018

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Mutations altering the structure of epidermal growth factor-like coding sequences at the Drosophila Notch locus

21 January 2018

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Partial sequence of a candidate gene for the Marfan syndrome

21 January 2018

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Location on chromosome 15 of the gene defect causing Marfan syndrome

21 January 2018

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7 January 2021

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

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7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

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7 January 2021

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

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7 January 2021

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

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7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

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7 January 2021

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

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7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

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7 January 2021

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency

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7 January 2021

Probable Homozygotic Form of the Marfan Syndrome in a Newborn Child

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7 January 2021

Biologically active synthetic fragments of epidermal growth factor: localization of a major receptor-binding region

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7 January 2021

Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a beta-OH Asp 64----Asn change

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7 January 2021

International nosology of heritable disorders of connective tissue, Berlin, 1986

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7 January 2021

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

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7 January 2021

DNA sequencing with chain-terminating inhibitors

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7 January 2021

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

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7 January 2021

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

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7 January 2021

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

7 January 2021

Prediction of beta-turns

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7 January 2021

Identifiers

DOI

10.1038/NG0194-64

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1 August 2017

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