Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing
By: Abd al-Qadir, al-Badri; al-Turki, Lulwah; Ahmad, Wasim…[et al.]. Saudi Journal of Kidney Diseases and Transplantation. Vol. 30, no. 4 (Jul. / Aug. 2019), pp.964-968, 5 p.
Subjects: Diagnosis; Molecular aspects; Mutation; Patients; Saudi Arabia