A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice

By Daroszewska Anna   van 't Hof Robert J.   Rojas Javier A.   Layfield Robert   Landao-Basonga Euphemie   Rose Lorraine   Rose Ken   Ralston Stuart H.  

Human Molecular Genetics, Vol. 20, Iss. 14, 2011-07 ,pp. : 2734-2744

Oxford University Press

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KVLQT1 Mutations in Three Families with Familial or Sporadic Long QT Syndrome

By Russell Mark W.   Dick Macdonald   Collins Francis S.   Brody Lawrence C.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1319-1324

Oxford University Press

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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

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Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2581-2592

Oxford University Press

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Mutations and impaired function of LKB1 in familial and non-familial Peutz–Jeghers syndrome and a sporadic testicular cancer

By Markie D.  

Human Molecular Genetics, Vol. 8, Iss. 1, 1999-01 ,pp. : 45-51

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A SQSTM1/p62 mutation linked to Pagets disease increases the osteoclastogenic potential of the bone microenvironment

By Hiruma Yuko   Kurihara Noriyoshi   Subler Mark A.   Zhou Hua   Boykin Christina S.   Zhang Heju   Ishizuka Seiichi   Dempster David W.   Roodman G. David   Windle Jolene J.  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3708-3719

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