A mutation in <it>CTSK </it>gene in an autosomal recessive pycnodysostosis family of Pakistani origin
<p>Abstract</p> <p>Background</p> <p>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 (<it>CTSK<...
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| Principais autores: | , , |
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| Formato: | Livro |
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BMC,
2009-08-01T00:00:00Z.
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| Número de Chamada: |
A1234.567 |
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| Cópia 1 | Disponível |