Open AccessPreliminary Results of Whole Exome Sequencing in Turkish Primary Ciliary Dyskinesia Patients - Hacettepe University Experience: “Three candidate genes, five novel and two known mutations”
Author(s) -
Nagehan Emiralioğlu,
Ekim Z. Taşkıran,
Can Kocukcu,
Gökçen Dilşa Tuğcu,
S. Esref,
Mina Hızal,
Ebru Yalçın,
Deni̇z Doğru,
Nural Ki̇per,
Mehmet Alikaşifoğlu,
Uğur Özçeli̇k
Publication year - 2017
Language(s) - English
Resource type - Conference proceedings
DOI - 10.1183/1393003.congress-2017.pa4467
Subject(s) - primary ciliary dyskinesia , exome sequencing , sanger sequencing , candidate gene , genetics , missense mutation , gene , disease gene identification , exome , genetic heterogeneity , population , biology , mutation , genotype , medicine , phenotype , bronchiectasis , environmental health , lung