Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alstrom syndrome patients
By: Kamal, Najla M.; Banaganapalli, Babajan; Shaik, Nur Ahmad…[et al.]. Saudi Journal of Biological Sciences. Vol. 27, no. 1 (Jan. 2020), pp.271-278, 8 p.
Subjects: Alstrom syndrome; Exomes; Mutation; Patients