Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.

Shaiq, P. A., Klausegger, A., Bauer, J. W., Azam, M., Raja G. K. and Qamar R.

The Journal of Dermatology 39:472-474 (2012).