(Q68300711)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

restriction fragment length polymorphism

23 September 2019

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674681

26 October 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

26 October 2022

author name string

A. R. McPhaden

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674681

26 October 2022

G. D. Birnie

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674681

26 October 2022

K. Whaley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674681

26 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1674681

26 October 2022

publication date

1 March 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1991.tb03006.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03006.x/fullpdf

26 October 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

26 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

161-171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon

23 September 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

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

26 October 2022

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

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

26 October 2022

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

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

26 October 2022

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

C1 inhibitor and hereditary angioneurotic edema

26 October 2022

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

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

26 October 2022

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

Isolation of high-molecular-weight DNA from mammalian cells

26 October 2022

8

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

Activation of the transforming potential of the human fos proto-oncogene requires message stabilization and results in increased amounts of partially modified fos protein

26 October 2022

10

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

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

26 October 2022

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

A catalogue of splice junction sequences

26 October 2022

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

26 October 2022

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema

26 October 2022

15

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

Altered C1 inhibitor genes in type I hereditary angioedema

26 October 2022

16

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1991.TB03006.X

26 October 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674681%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference