HAE caused by a novel deep intronic mutation in SERPING1 indroducing a cryptic exon.

• Authors: GROMBIŘÍKOVÁ Hana; HUJOVÁ Pavla; SOUČEK Přemysl; GRODECKÁ Lucie; RAVČUKOVÁ Barbora; KOVÁČOVÁ Tatiana; KRSJAKOVA T; KUKLÍNEK Pavel; HAKL Roman; LITZMAN Jiří; FREIBERGER Tomáš
• Year of publication: 2017
• Type: Conference abstract