Exome capture sequencing identifies a novel mutation in BBS4
Page 1 of 1
Exome capture sequencing identifies a novel mutation in BBS4
Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011;17:3529-3540 <http://www.molvis.org/molvis/v17/a379>
Similar topics
» Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
» Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
» Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
» Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
» Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
» Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
» Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
» Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
» Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum
|
|