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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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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2009
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| Assuntos: | |
| Acesso em linha: | 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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