Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles.

Prezentace na téma: "Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles."— Transkript prezentace:

1 Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations  Petra Křenková, Tereza Piskáčková, Andrea Holubová, Miroslava Balaščaková, Veronika Krulišová, Jana Čamajová, Marek Turnovec, Malgorzata Libik, Patricia Norambuena, Alexandra Štambergová, Lenka Dvořáková, Veronika Skalická, Jana Bartošová, Tereza Kučerová, Libor Fila, Dana Zemková, Věra Vávrová, Monika Koudová, Milan Macek, Sr., Alice Krebsová, Milan Macek  Journal of Cystic Fibrosis  Volume 12, Issue 5, Pages (September 2013) DOI: /j.jcf Copyright © 2012 European Cystic Fibrosis Society. Terms and Conditions

2 Fig. 1 Origin of 600 Czech CF patients. Legend: Origin of patients is based on the postal codes of their domicile. Number of patients in the regions: Capital Prague (Praha) Region — 99; Central Bohemia Region (i.e. regiona surrounding Prague) — 88; Ústí nad Labem Region — 52; Pilsen (Plzeň) Region — 48; Liberec Region — 41; South-Bohemian (České Budějovice) Region — 40; Hradec Králové Region — 37; Zlín Region — 32; Pardubice Region — 31; Moravian-Silesian (Ostrava) Region — 29; Vysočina (Jihlava) Region — 29; Karlovy Vary Region — 26; Olomouc Region — 25; South Moravian (Brno) Region — 23. Journal of Cystic Fibrosis  , DOI: ( /j.jcf ) Copyright © 2012 European Cystic Fibrosis Society. Terms and Conditions