(Q33673909)

28 July 2017

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

1 reference

28 July 2017

1 reference

D R Hewett

1

1 reference

28 July 2017

J R Lynch

series ordinal

2

1 reference

28 July 2017

A Child

series ordinal

3

1 reference

28 July 2017

B C Sykes

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

338-339

1 reference

28 July 2017

4

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

A receptor-mediated pathway for cholesterol homeostasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

Structure-function relationships of epidermal growth factor modules in vitamin K-dependent clotting factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049811

Partial sequence of a candidate gene for the Marfan syndrome

28 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8071963

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8071963

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Marfan gene dissected

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8071963

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.4.338

1 reference

28 July 2017

1 reference

28 July 2017

1 reference