(Q34548201)

2 August 2017

An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema (English)

1 reference

restriction fragment length polymorphism

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1684567

28 October 2022

1 reference

28 October 2022

author name string

McPhaden AR

2

1 reference

2 August 2017

Z. Siddique

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1684567

28 October 2022

A. R. McPhaden

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1684567

28 October 2022

D. F. Lappin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1684567

28 October 2022

K. Whaley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1684567

28 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=1684567

28 October 2022

publication date

1 December 1991

1 reference

full work available at URL

2 August 2017

http://link.springer.com/content/pdf/10.1007/BF00206079.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00206079/fulltext.html

28 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00206079

28 October 2022

1 reference

28 October 2022

1 reference

2 August 2017

88

1 reference

2 August 2017

2

1 reference

2 August 2017

231-232

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00206079

2 August 2017

0 references

cites work

C1 inhibitor and hereditary angioneurotic edema

1 reference

12 December 2020

Molecular pathology of haemophilia B

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary angioedema: an appraisal of 104 cases

1 reference

12 December 2020

Molecular basis and prenatal diagnosis of beta-thalassemia

1 reference

12 December 2020

DNA sequence analysis with a modified bacteriophage T7 DNA polymerase

1 reference

12 December 2020

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

1 reference

12 December 2020

Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206079

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference