About: A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema

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About: A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована у квітні 2014 (uk) im April 2014 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q61847314-E3FB4295-69E7-4D8F-A3A4-C8EF92101EB4
publication date	2014-04-24 00:00:00Z (xsd:dateTime)
exact match	wds:Q61847314-7292E847-06BD-4CF1-946A-BC3CE6841A2C
exact match	https://scigraph.springernature.com/pub.10.1007/s10875-014-0042-3
cites work	wds:Q61847314-216BC14A-6CE4-4717-B045-8D4EA671AFEF wds:Q61847314-22B51082-DA00-480D-880A-99F53472CA52 wds:Q61847314-437D9CA9-C023-4114-BBB6-C77428048D9F wds:Q61847314-53B855EA-272C-4F9D-AEFE-555984357155 wds:Q61847314-86827FDE-C64A-4E62-8EB2-ED792937B6DC wds:Q61847314-BECA4E64-5500-4D59-B892-E620BC04104E wds:Q61847314-D3747B10-6EA1-438A-89D8-943F460628C4 wds:Q61847314-FC774E25-A2FD-4DD5-B26C-A85984F14252
cites work	C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress Pick one, but be quick: 5' splice sites and the problems of too many choices The regulation of mRNA stability in mammalian cells: 2.0. Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part I. Classification, epidemiology, pathophysiology, genetics, clinical symptoms, and diagnosis Hereditary angio-oedema Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. Splicing in action: assessing disease causing sequence changes Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.
author name string	wds:Q61847314-ABA02534-660C-44E8-A8BA-801FAD09F8C9 wds:Q61847314-F9DF5484-79AD-474D-966C-25E7EAFD1510
author name string	Ricardo Pujol-Borrell Manuel Hernández-González
rdfs:label	A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema (en) A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema (nl)
skos:prefLabel	A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema (en) A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema (nl)
name	A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema (en) A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema (nl)
author	wds:Q61847314-21E594F7-301D-4884-8E2A-529E69F4E78E wds:Q61847314-3F37C278-8B17-4E6D-A464-C1F41293B42A wds:Q61847314-656EDD58-7D6E-47BA-9822-07DD4A6EEF6A wds:Q61847314-FAAD4C21-25F7-4FF8-A926-E9F786E85FE9
author	R Pujol-Borrell Roger Colobran Mar Guilarte Manuel Hernandez-Gonzalez
title	wds:Q61847314-FD40ED54-1498-485A-A9D3-51C3A1EA693A
title	A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema (en)
page(s)	wds:Q61847314-A9F112C2-F5B8-4A16-9D0D-B001CD74B2C6
page(s)	521-523
instance of	wds:Q61847314-34878173-EE64-4FA9-AD80-BBB839EB5FC3
instance of	scholarly article
main subject	wds:Q61847314-78B9D84F-4C48-4E0A-AC14-27E16DCB9DA3 wds:Q61847314-C970C7AD-3453-47E2-AEA5-E63811567265
main subject	hereditary angioedema haploinsufficiency
PubMed ID	wds:Q61847314-AB13F3CE-F017-4E27-8AAE-FBC7C1285ACA
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/24760113
PubMed ID	24760113
published in	wds:Q61847314-3BAE8B96-AD8E-4F46-BDF0-80C22CB60495
published in	Journal of Clinical Immunology
issue	wds:Q61847314-9084E90A-8342-4047-B7B8-8DE8DA89099F
volume	wds:Q61847314-1611E0B3-6C87-4F3E-8921-662EBAE88968
issue	5
volume	34
DOI	wds:Q61847314-0AE11564-959B-4632-AC28-E71E957916B1
DOI	http://dx.doi.org/10.1007/S10875-014-0042-3
DOI	10.1007/S10875-014-0042-3
Dimensions Publication ID	wds:Q61847314-7B861FD6-357C-4554-AF2D-B3FDF4B82571
Dimensions Publication ID	1015697211
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q61847314
is cites work of	Genetics of Hereditary Angioedema Revisited
is cites work of	wds:Q38818135-89D98A7C-38F7-4070-94E7-D2392915566E

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