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A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

BACKGROUND: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible...

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Bibliografski detalji
Glavni autori: Naeem, Muhammad, Sheikh, Sabeen, Ahmad, Wasim
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2009
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2736932/
https://ncbi.nlm.nih.gov/pubmed/19674475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-76
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