(Q71763245)

English

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta

scientific article published on 01 November 1996

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

osteogenesis imperfecta

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alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

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Q Wang

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A Forlino

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

J C Marini

3

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21 October 2019

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1 November 1996

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21 October 2019

Journal of Biological Chemistry

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

271

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

45

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21 October 2019

28617-28623

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Heritable diseases of collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

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://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Human bone cellsin vitro.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Plasmid cDNA-directed protein synthesis in a coupled eukaryotic in vitro transcription-translation system.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate cr

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Osteogenesis imperfecta: changes in noncollagenous proteins in bone

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.45.28617

21 January 2018

Identifiers

10.1074/JBC.271.45.28617

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8910493%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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