Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, Ayub H, Abbasi NM, Riaz M, Micheal S, Gilissen C, Ali SH, Azam M, Collin RW, Cremers FP, Qamar R.
Ajmal M, et al. Among authors: micheal s.
Mol Vis. 2013;19:644-53. Epub 2013 Mar 21.
Mol Vis. 2013.
PMID: 23559858
Free PMC article.