CTSKCathepsin K
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To date 34 mutations in CTSK have been reported in 59 families with pycnodysostosis (Schilling et al.
The candidate gene for pycnodysostosis CTSK, was amplified by designing specific primers (Supplementary Table II) with "Exon primer" (Human Genome Browser (UCSC)) for all coding exons of CTSK (NM_000396.
The gene responsible for pycnodysostosis CTSK was analyzed further.
The study presented here revealed the identification of a known missense mutation in CTSK in a consanguineous Pakistani family belonging to Kashmir.