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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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Detalles Bibliográficos
Autores principales:	Naeem, Muhammad, Sheikh, Sabeen, Ahmad, Wasim
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736932/ https://www.ncbi.nlm.nih.gov/pubmed/19674475 http://dx.doi.org/10.1186/1471-2350-10-76

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