(Q33263857)

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Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi

scientific article published on June 25, 1991

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24 July 2017

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi (English)

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Europe PubMed Central

24 July 2017

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation (English)

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10.1016/S0021-9258(18)99061-7

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osteogenesis imperfecta

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5 November 2022

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10.1016/S0021-9258(18)99061-7

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A. Ganguly

1

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C. T. Baldwin

2

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D. Strobel

3

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D. Conway

4

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W. Horton

5

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D. J. Prockop

6

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1 June 1991

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25 June 1991

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full work available at URL

http://intl.jbc.org/cgi/content/abstract/266/18/12035

online access status

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Journal of Biological Chemistry

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24 July 2017

266

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12035-12040

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24 July 2017

18

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

2

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10.1016/S0021-9258(18)99061-7

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5 November 2022

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

3

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10.1016/S0021-9258(18)99061-7

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5 November 2022

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

6

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10.1016/S0021-9258(18)99061-7

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5 November 2022

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

11

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10.1016/S0021-9258(18)99061-7

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5 November 2022

Detection and location of single-base mutations in large DNA fragments by immunomicroscopy

12

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10.1016/S0021-9258(18)99061-7

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5 November 2022

Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction

13

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10.1016/S0021-9258(18)99061-7

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5 November 2022

Genetic heterogeneity in osteogenesis imperfecta

14

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10.1016/S0021-9258(18)99061-7

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5 November 2022

Human skin collagenase: isolation of precursor and active forms from both fibroblast and organ cultures

16

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Proteolytic enzymes as probes for the triple-helical conformation of procollagen

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10.1016/S0021-9258(18)99061-7

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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.

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10.1016/S0021-9258(18)99061-7

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

19

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10.1016/S0021-9258(18)99061-7

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A simple and very efficient method for generating cDNA libraries

22

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10.1016/S0021-9258(18)99061-7

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5 November 2022

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.

23

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10.1016/S0021-9258(18)99061-7

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5 November 2022

DNA sequencing with chain-terminating inhibitors

24

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5 November 2022

Investigation of nucleic acid secondary structure by means of chemical modification with a carbodiimide reagent. I. Reaction between N-cyclohexyl-N'-β-(4-methylmorpholinium)ethylcarbodiimide and model nucleotides

25

1 reference

10.1016/S0021-9258(18)99061-7

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

26

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10.1016/S0021-9258(18)99061-7

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

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10.1016/S0021-9258(18)99061-7

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Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

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A DNA insertion/deletion necessitates an aberrant RNA splice accounting for a mu heavy chain disease protein

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Abnormal RNA splicing causes one form of alpha thalassemia

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Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

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GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

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10.1016/S0021-9258(18)99061-7

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Splicing mutation in human hereditary analbuminemia

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5 November 2022

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

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10.1016/S0021-9258(18)99061-7

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Mechanisms of Alternative Pre-mRNA Splicing

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10.1016/S0021-9258(18)99061-7

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5 November 2022

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Europe PubMed Central

24 July 2017

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