Associated Papers
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.
Shaiq PA et al.
The Journal of Dermatology, 2012
A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.
Has C et al.
Journal of Dermatological Science, 2008
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH et al.
The Journal of Investigative Dermatology, 2004
Select a paper to view details