(Q44017157)

English

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

scientific article published on March 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

osteogenesis imperfecta

0 references

chromosomal deletion syndrome

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

author name string

A. C. Nicholls

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

J. Oliver

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

D. V. Renouf

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

D. A. Heath

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

F. M. Pope

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551666

8 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1551666

8 October 2022

publication date

1 March 1992

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

88

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

627-633

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Film Detection Method for Tritium-Labelled Proteins and Nucleic Acids in Polyacrylamide Gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations that alter the primary structure of type I procollagen have long-range effects on its cleavage by procollagen N-proteinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organization of the human pro-alpha 2(I) collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PCR artifact: generation of heteroduplexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1551666

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02265286

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

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