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dysostoses/cistein

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ČlanciKliničkim ispitivanjimaPatenti
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Potential role of cathepsin K in the pathophysiology of mucopolysaccharidoses.

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Cathepsin K, a papain-like cysteine protease, is highly expressed in osteoclasts and plays a critical role in bone resorption. Dysfunction of the enzyme leads to various skeletal abnormalities. The recent knowledge that the collagenolytic activity of cathepsin K depends on interactions with bone and

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

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Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected
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