(Q42131929)

17 October 2017

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome (English)

1 reference

17 October 2017

D Hewett

1

1 reference

17 October 2017

J Lynch

2

1 reference

17 October 2017

A Child

3

1 reference

17 October 2017

H Firth

4

1 reference

17 October 2017

B Sykes

5

1 reference

17 October 2017

language of work or name

English

0 references

publication date

1 September 1994

1 reference

American Journal of Human Genetics

17 October 2017

1 reference

17 October 2017

55

1 reference

17 October 2017

3

1 reference

17 October 2017

447-452

1 reference

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

Biochemical genetics: examples of life after cloning

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

A new missense mutation of fibrillin in a patient with Marfan syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918385

Location on chromosome 15 of the gene defect causing Marfan syndrome

17 August 2018

1 reference

12 December 2020

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Marfan gene dissected

1 reference

12 December 2020

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

1 reference

12 December 2020

Second international symposium on the Marfan syndrome, November 7-9, 1992, San Francisco, CA

1 reference

12 December 2020

Identifiers

1 reference

17 October 2017

PubMed publication ID

7915876

1 reference