Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. (Q33674440)

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6 October 2019

title

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family (English)

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6 October 2019

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1

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6 October 2019

author name string

J R Hawkins

series ordinal

2

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6 October 2019

M Keston

series ordinal

3

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6 October 2019

language of work or name

English

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publication date

1 March 1987

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Journal of Medical Genetics

6 October 2019

published in

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6 October 2019

volume

24

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6 October 2019

issue

3

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6 October 2019

page(s)

148-151

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Marfan syndrome: abnormal alpha 2 chain in type I collagen

6 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

An RFLP associated with the human type III collagen gene (COL3A1).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Mutations in collagen genes. Consequences for rare and common diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Hypervariable 'minisatellite' regions in human DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

The Marfan Syndrome: Diagnosis and Management

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049947

Life Expectancy and Causes of Death in the Marfan Syndrome

21 June 2018

1 reference

12 December 2020

Basic Defects in the Marfan Syndrome

1 reference

12 December 2020

Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization

1 reference

12 December 2020

Isolation and Characterization of a Human Pro α2(I) Collagen Gene Segment

1 reference

12 December 2020

Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients

1 reference

12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

12 December 2020

Marfan's syndrome in Northern Ireland; an account of thirteen families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.24.3.148

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883320%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

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6 October 2019

PubMed publication ID

2883320

1 reference