The LP family pedigree and DNA sequence analysis. (A) A multigenerational consanguineous Pakistani family in which lipoid proteinosis (LP) is segregating as an autosomal recessive trait. (B) The electropherogram of an affected member revealed a homozygous C > T transition at nucleotide position c.616 in exon 6 while father's electropherogram revealed heterozygosity at the same position.
Nasir et al. Diagnostic Pathology 2011 6:69 doi:10.1186/1746-1596-6-69