Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements (Q24558897)

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object named as

D Stoppa-Lyonnet

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author name string

P E Carter

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T Meo

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M Tosi

Proceedings of the National Academy of Sciences of the United States of America

4

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language of work or name

English

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publication date

February 1990

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published in

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volume

87

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page(s)

1551-5

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issue

4

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cites work

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Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization

24 March 2017

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Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

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A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.

7 April 2017

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Repetitive sequences in eukaryotic DNA and their expression

27 September 2017

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27 September 2017

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27 September 2017

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Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

27 September 2017

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Revision of consensus sequence of human Alu repeats--a review

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[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

27 September 2017

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A fundamental division in the Alu family of repeated sequences

27 September 2017

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Sources and evolution of human Alu repeated sequences

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Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

27 September 2017

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C1 inhibitor and hereditary angioneurotic edema

27 September 2017

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Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins

27 September 2017

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Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily.

27 September 2017

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27 September 2017

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Molecular defects of the C1-inhibitor gene in hereditary angioedema

27 September 2017

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27 September 2017

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Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

27 September 2017

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Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation

30 May 2018

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Angioedema induced by a peptide derived from complement component C2.

30 May 2018

1 reference

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A rapid single-stranded cloning, sequencing, insertion, and deletion strategy.

30 May 2018

1 reference

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Hereditary Angioedema: the Clinical Syndrome and Its Management

19 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2154751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Altered C1 inhibitor genes in type I hereditary angioedema

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2154751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.87.4.1551

1 reference

1804037

ADS bibcode

1990PNAS...87.1551S

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1804037

1 reference

1 reference

1 reference