Identification and Mapping of a 2,009-bp DNA Deletion in of a Hereditary Angioedema Patient

scientific article published on 24 February 2019

Identification and Mapping of a 2,009-bp DNA Deletion in of a Hereditary Angioedema Patient is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

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P356DOI10.1155/2019/7052062
P932PMC publication ID6409050
P698PubMed publication ID30923640

P50authorWai-Yu WongQ92690009
P2093author name stringHelen Wong
Eric Chan
Elaine Au
P2860cites workIncreased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type IIIQ24671677
Structural Variation of Alu Element and Human DiseaseQ28079396
Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data setsQ30757355
Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P.Q34021159
Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elementsQ34104715
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 geneQ34599332
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in ItalyQ35099643
C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progressQ37375447
Hereditary angioedema with a mutation in the plasminogen gene.Q38630944
Genetics of Hereditary Angioedema RevisitedQ38818135
Angioedema attacks in patients with hereditary angioedema: Local manifestations of a systemic activation processQ38849531
Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyondQ40484335
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedemaQ46934585
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and updateQ48520943
Hereditary Angioedema with Normal C1 Inhibitor: Four Types and CountingQ50151632
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.Q50551924
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity.Q51129178
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.Q54517963
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.Q54657692
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiencyQ56970746
Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian familiesQ58591688
Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedemaQ73288257
First case of homozygous C1 inhibitor deficiencyQ79396282
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedemaQ85002896
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activationQ85073072
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutationsQ87152066
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patientsQ93945604
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjecthereditary angioedemaQ2096745
P304page(s)7052062
P577publication date2019-02-24
P1433published inCase reports in geneticsQ26842219
P1476titleIdentification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient
P478volume2019

Reverse relations

Q90090895SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypescites workP2860

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