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In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH De...

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH De...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2479418982

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency

About this item

Full title

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency

Publisher

New York: Springer US

Journal title

Clinical reviews in allergy & immunology, 2021-08, Vol.61 (1), p.1-14

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is caused by mutations affecting the SERPING1 gene. Adult patients (≥ 18 years old) diagnosed with C1-INH-HAE were clustered according to a modified SERPING1 gene mutation classification [
5
]. Demographic, clinical, and laboratory data were studied. Published manuscripts on th...

Alternative Titles

Full title

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2479418982

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2479418982

Other Identifiers

ISSN

1080-0549

E-ISSN

1559-0267

DOI

10.1007/s12016-021-08834-9

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