Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

Ajmal, M, Khan, M.I., Neveling, K., Tayyab, A., Jaffar, S., Sadeque, A., Ayub, H., Abbasi, N.M., Riaz, M., Micheal, S., Gilissen, C., Ali, S.H.B., Azam, M., Collin, R.W.J., Cremers, F.P.M. and Qamar, R.    Molecular Vision, 19:644-653 (2013).