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Title
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Authors
Ostergaard, P.; Simpson, M. A.; Brice, G.; Mansour, S.; Connell, F. C.; Onoufriadis, A.; Child, A. H.; Hwang, J.; Kalidas, K.; Mortimer, P. S.; Trembath, R.; Jeffery, S.
Publication
Journal of Medical Genetics, 2011, Vol 48, Issue 4, p251