Figure 2From: A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin Mutation analysis of the CTSK gene. DNA sequences of exon 7 of the CTSK gene from (a) a control individual, (b) a heterozygous carrier and (c) a homozygous (affected) individual are shown. The arrow denotes nucleotide position 935, which is mutated from C to T, resulting in A277V missense mutation.Back to article page