Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. (Q48127694)

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scientific article published in April 1993

Language	Label	Description	Also known as
English	Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.	scientific article published in April 1993

Statements

scholarly article

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. (English)

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

osteogenesis imperfecta

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2

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http://europepmc.org/abstract/MED/7916744

Helena Kuivaniemi

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http://europepmc.org/abstract/MED/7916744

author name string

J Zhuang

1

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8 February 2018

http://europepmc.org/abstract/MED/7916744

K Nakayasu

4

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Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

D J Prockop

5

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

publication date

1 April 1993

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http://europepmc.org/abstract/MED/7916744

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Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

91

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210-216

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3

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https://scigraph.springernature.com/pub.10.1007/bf00218258

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Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

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https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

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The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

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https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

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Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

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Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

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Multiple osteogenesis imperfecta in one family

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https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

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The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

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https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

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Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

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/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved free-energy parameters for predictions of RNA duplex stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR analysis of alternative splicing pathways: identification of artifacts generated by heteroduplex formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

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/7916744

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/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7916744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00218258

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/7916744

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