Hereditary angioedema: Molecular and clinical differences among European populations
Extending the bioinformatic analysis to all the 95 amino acid substitutions presented in HAEdb (C1 inhibiTor gene muTATion dATAbAse, available at hae.enzim.hu7), we found that several additional alterations previously described by other researchers were estimated to be tolerant for the protein funct...
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| Veröffentlicht in: | Journal of allergy and clinical immunology 2015-02, Vol.135 (2), p.570-573.e10 |
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| creator | Speletas, Matthaios, MD, PhD Szilagyi, Agnes, PhD Psarros, Fotis, MD Moldovan, Dimitru, MD, PhD Magerl, Markus, MD Kompoti, Maria, MD Gramoustianou, Evangelia, PhD Bors, Andras, PhD Mihaly, Eniko, MD Tordai, Attila, PhD Avramouli, Antigoni, MSc Varga, Lilian, PhD Maurer, Marcus, MD Farkas, Henriette, MD, DSc Germenis, Anastasios E., MD, PhD |
| description | Extending the bioinformatic analysis to all the 95 amino acid substitutions presented in HAEdb (C1 inhibiTor gene muTATion dATAbAse, available at hae.enzim.hu7), we found that several additional alterations previously described by other researchers were estimated to be tolerant for the protein function (Table E5 in this article's Online Repository at www.jacionline.org). [...]we suggest that bioinformatic analysis performed in cases of novel (missense) mutations could provide indications for a comprehensive analysis of SERPING1. |
| doi_str_mv | 10.1016/j.jaci.2014.08.007 |
| format | Article |
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[...]we suggest that bioinformatic analysis performed in cases of novel (missense) mutations could provide indications for a comprehensive analysis of SERPING1.</description><subject>Allergy and Immunology</subject><subject>Angioedema</subject><subject>Angioedemas, Hereditary - diagnosis</subject><subject>Angioedemas, Hereditary - genetics</subject><subject>Complement C1 Inactivator Proteins - genetics</subject><subject>Complement C1 Inhibitor Protein</subject><subject>Defects</subject><subject>Ethnicity</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Family medical history</subject><subject>Genetic Variation</subject><subject>Genotype</subject><subject>Humans</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Proteins</subject><subject>Studies</subject><issn>0091-6749</issn><issn>1097-6825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU9r3DAQxUVJabZJv0AOxZCz3ZGsf1tCoIS0KaT0kPQstNI4yPFarmQX8u0rs0kLPfQkRrz3hvcbQs4oNBSo_NA3vXWhYUB5A7oBUK_IhsJW1VIzcUQ2AFtaS8W3x-Rtzj2UudXbN-SYCSY05bAh9zeY0IfZpqfKjg8hose9_Vh9iwO6ZbCp_PrKDWEMzg6VD11XDKPDXNl9HB-q6yXFCe1YTXEq-jnEMZ-S150dMr57fk_Ij8_X91c39e33L1-vPt3WjoOcawaeKiuV5soypTxrBde6k65DKa3dObdjVCOXVoqWq05rdEXCuW-VdNK3J-T8kDul-HPBPJs-LmksKw2VggraaqGLih1ULsWcE3ZmSmFfChsKZgVperOCNCtIA9oUkMX0_jl62e3R_7G8kCuCi4MAS8FfAZPJLqxgfEjoZuNj-H_-5T_2F8aP-IT5bw-TmQFzt55yvWRZTanQ0P4GtjqY2w</recordid><startdate>20150201</startdate><enddate>20150201</enddate><creator>Speletas, Matthaios, MD, PhD</creator><creator>Szilagyi, Agnes, PhD</creator><creator>Psarros, Fotis, MD</creator><creator>Moldovan, Dimitru, MD, PhD</creator><creator>Magerl, Markus, MD</creator><creator>Kompoti, Maria, MD</creator><creator>Gramoustianou, Evangelia, PhD</creator><creator>Bors, Andras, PhD</creator><creator>Mihaly, Eniko, MD</creator><creator>Tordai, Attila, PhD</creator><creator>Avramouli, Antigoni, MSc</creator><creator>Varga, Lilian, PhD</creator><creator>Maurer, Marcus, MD</creator><creator>Farkas, Henriette, MD, DSc</creator><creator>Germenis, Anastasios E., MD, PhD</creator><general>Elsevier Inc</general><general>Elsevier Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7SS</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope></search><sort><creationdate>20150201</creationdate><title>Hereditary angioedema: Molecular and clinical differences among European populations</title><author>Speletas, Matthaios, MD, PhD ; 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| subjects | Allergy and Immunology Angioedema Angioedemas, Hereditary - diagnosis Angioedemas, Hereditary - genetics Complement C1 Inactivator Proteins - genetics Complement C1 Inhibitor Protein Defects Ethnicity European Continental Ancestry Group - genetics Family medical history Genetic Variation Genotype Humans Mutation Phenotype Proteins Studies |
| title | Hereditary angioedema: Molecular and clinical differences among European populations |
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