scholarly article | Q13442814 |
case report | Q2782326 |
P50 | author | Wai-Yu Wong | Q92690009 |
P2093 | author name string | Helen Wong | |
Eric Chan | |||
Elaine Au | |||
P2860 | cites work | Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III | Q24671677 |
Structural Variation of Alu Element and Human Disease | Q28079396 | ||
Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets | Q30757355 | ||
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 elements | Q34104715 | ||
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 Pathology | Q34465792 | ||
Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene | Q34599332 | ||
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy | Q35099643 | ||
C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress | Q37375447 | ||
Hereditary angioedema with a mutation in the plasminogen gene. | Q38630944 | ||
Genetics of Hereditary Angioedema Revisited | Q38818135 | ||
Angioedema attacks in patients with hereditary angioedema: Local manifestations of a systemic activation process | Q38849531 | ||
Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond | Q40484335 | ||
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema | Q46934585 | ||
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update | Q48520943 | ||
Hereditary Angioedema with Normal C1 Inhibitor: Four Types and Counting | Q50151632 | ||
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 deficiency | Q56970746 | ||
Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families | Q58591688 | ||
Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema | Q73288257 | ||
First case of homozygous C1 inhibitor deficiency | Q79396282 | ||
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema | Q85002896 | ||
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation | Q85073072 | ||
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations | Q87152066 | ||
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients | Q93945604 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P407 | language of work or name | English | Q1860 |
P921 | main subject | hereditary angioedema | Q2096745 |
P304 | page(s) | 7052062 | |
P577 | publication date | 2019-02-24 | |
P1433 | published in | Case reports in genetics | Q26842219 |
P1476 | title | Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient | |
P478 | volume | 2019 |
Q90090895 | SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes | cites work | P2860 |
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