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HAEdb - C1 inhibitor gene mutation database

The creators of this web page intended to contribute to the achievement of the following goals:. To help the collection of information on genetic alterations of the C1 inhibitor (C1INH) gene discovered in several laboratories with different motivations. To create a database where these data can be searched and compared according to several characteristics. To provide additional comprehensive help in the difficult decision that a new mutation may be disease causing or not. STRUCTURE OF THE C1 INHIBITOR.

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HAEdb - C1 inhibitor gene mutation database | hae.enzim.hu Reviews

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The creators of this web page intended to contribute to the achievement of the following goals:. To help the collection of information on genetic alterations of the C1 inhibitor (C1INH) gene discovered in several laboratories with different motivations. To create a database where these data can be searched and compared according to several characteristics. To provide additional comprehensive help in the difficult decision that a new mutation may be disease causing or not. STRUCTURE OF THE C1 INHIBITOR.

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HAEdb - C1 inhibitor gene mutation database | hae.enzim.hu Reviews

https://hae.enzim.hu

The creators of this web page intended to contribute to the achievement of the following goals:. To help the collection of information on genetic alterations of the C1 inhibitor (C1INH) gene discovered in several laboratories with different motivations. To create a database where these data can be searched and compared according to several characteristics. To provide additional comprehensive help in the difficult decision that a new mutation may be disease causing or not. STRUCTURE OF THE C1 INHIBITOR.

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HAEdb - C1 inhibitor gene mutation database

http://hae.enzim.hu/index.php

The creators of this web page intended to contribute to the achievement of the following goals:. To help the collection of information on genetic alterations of the C1 inhibitor (C1INH) gene discovered in several laboratories with different motivations. To create a database where these data can be searched and compared according to several characteristics. To provide additional comprehensive help in the difficult decision that a new mutation may be disease causing or not. STRUCTURE OF THE C1 INHIBITOR.

2

HAEdb - C1 inhibitor gene mutation database

http://hae.enzim.hu/maillist.php

If you want to receive e-mails containing the updated information of this database, you can subscribe here. The system automatically sends an e-mail containing the new information added in the past 24 hours to each subscriber at 4.00am (CET), if there were any new submission/change. Owner e-mail is automatically subscribed to the mailing list.

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HAEdb - C1 inhibitor gene mutation database

http://hae.enzim.hu/result.php?q_uid=*

You can save your results in a tab-limited text file format, which can be opened with programs like Excel: [SaveResults]. Click on the links (red) to see the detailed information. Gross mutations (sorted by position):. Click on the links (red) to see the detailed information. Micro mutations (sorted by position):. Click on the links (red) to see the detailed information. Variant in 5' untranslated region. Deletion of amino acid. Splicing defect or Gly162Arg. C550 2 550 3insT. Asp207 Ser274del, Leu273Arg.

4

HAEdb - C1 inhibitor gene mutation database

http://hae.enzim.hu/versions.php

Evolution of the Database. Creation year of the current database engine. Installation date in brackets (yyyy.mm.dd). Version 2002.0.0. (2002.10.8):. Beta 1 release of the database with main functions: data deposition/modify and search. Version 2002.0.1. (2002.10.31):. Minor improvements on the Beta 1 release: "family history" and "Number of unrelated cases" boxes added to the mutation submisson form. Version 2003.0.0. (2003.02.25):. Version 2003.1.0. (2003.03.17):.

5

HAEdb - C1 inhibitor gene mutation database

http://hae.enzim.hu/info.php

Canadian Hereditary Angioedema Society. Information about HAE (type I and II) at the Online Mendelian Inheritence in Man (OMIM) database. Information about HAE (type III) at the Online Mendelian Inheritence in Man (OMIM) database. C1 Inhibitor mutations in The Human Gene Mutation Database Cardiff (HGMD). C1 Inhibitor data in NCBI LocusLink database. C1 Inhibitor data in the NIH MGC (Mammalian Gene Collection) database. C1 inhibitor data in the NCBI SNP database.

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http://www.mabit.ttk.mta.hu/doc/hu/society/resources/database

Magyarországi bioinformatikusok által fejlesztett és karbantartott adatbázisok. ARN, autofágia regulációs hálózati adatbázis. Korcsmáros Tamás (korcsmaros kukac netbiol pont elte pont hu). ELTE TTK Genetika Tsz. DT40 Genom: A csirke DT40 burzal limfóma sejtvonal gemonszekvenciája. A dt40 honlapon a csirke dt40 sejt de novo szekvenálási adatai találhatók, amelyek letölthetők, illetve BLAST-tal kereshető. Molnár János (molnar pont janos kukac ttk pont mta pont hu). MTA TTK Enzimológiai Intézet. A HAEdb egy...

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HAEdb - C1 inhibitor gene mutation database

The creators of this web page intended to contribute to the achievement of the following goals:. To help the collection of information on genetic alterations of the C1 inhibitor (C1INH) gene discovered in several laboratories with different motivations. To create a database where these data can be searched and compared according to several characteristics. To provide additional comprehensive help in the difficult decision that a new mutation may be disease causing or not. STRUCTURE OF THE C1 INHIBITOR.

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