(Q37084846)

18 August 2017

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides (English)

1 reference

18 August 2017

1 reference

K. Kainulainen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

L. Y. Sakai

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

A. Child

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

F. M. Pope

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

L. Puhakka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

L. Ryhänen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

A. Palotie

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

I. Kaitila

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

L. Peltonen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

18 October 2022

language of work or name

English

0 references

publication date

1 July 1992

1 reference

PMCID

49408

full work available at URL

18 August 2017

https://europepmc.org/articles/PMC49408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

https://europepmc.org/articles/PMC49408?pdf=render

18 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631074

https://pnas.org/doi/pdf/10.1073/pnas.89.13.5917

18 October 2022

1 reference

Crossref

DOI

10.1073/PNAS.89.13.5917

https://api.crossref.org/works/10.1073/PNAS.89.13.5917

Proceedings of the National Academy of Sciences of the United States of America

18 October 2022

published in

1 reference

18 August 2017

89

1 reference

18 August 2017

5917-5921

1 reference

18 August 2017

13

1 reference

Heritable diseases of collagen

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Blot hybridisation analysis of genomic DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Spectrum of mutations in aspartylglucosaminuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Detection of specific sequences among DNA fragments separated by gel electrophoresis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

The Marfan Syndrome: Diagnosis and Management

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

DNA sequencing with chain-terminating inhibitors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49408

Partial sequence of a candidate gene for the Marfan syndrome

27 July 2018

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing 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 Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

12 December 2020

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

1 reference

12 December 2020

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.89.13.5917

1 reference

18 August 2017

0 references

1 reference

18 August 2017

1 reference

PMCID

49408