題名
Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations.
著者
Umeda A, Kiyosawa H, Miyagawa K, Ohira Y, Higuchi M, Namkoong H, Asakura T, Ishii M, Hasegawa N, Fukunaga K.