MUDr. Roman Hakl, Ph.D.

2017

• New deep intronic mutation c.1029+384 A>G in SERPING1 gene creates de novo donor splice site and causes aberrant splicing

  HUJOVÁ Pavla GROMBIŘÍKOVÁ Hana SOUČEK Přemysl GRODECKÁ Lucie RAVČUKOVÁ Barbora KUKLÍNEK Pavel HAKL Roman FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

2016

• Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre

  HAKL Roman KUKLÍNEK P. KADLECOVÁ P. LITZMAN Jiří

  Article in Periodical

  Allergologia et immunopathologia, year: 2016, volume: 44, edition: 3, DOI

• Současné možnosti léčby hereditárního angioedému

  HAKL Roman

  Article in Periodical

  Vnitřní lékařství, year: 2016, volume: 62, edition: 9

2015

• A novel STAT3 gene mutation revealed in a patient with hyper IgE syndrome and severe eczema

  BŘEZINOVÁ Eva NEČAS Miroslav HAKL Roman THON Vojtěch FREIBERGER Tomáš RAVČUKOVÁ Barbora VAŠKŮ Vladimír

  Conference abstract

  Year: 2015, type: Conference abstract

• Activation of granulocytes in common variable immunodeficiency and hereditary angioedema

  HLAVÁČKOVÁ Eva TICHÁ Olga HAKL Roman LITZMAN Jiří

  Conference abstract

  Year: 2015, type: Conference abstract