An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia

By Benet-Pagès Anna  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 385-390

Oxford University Press

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Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3 ) in a family with Bethlem myopathy

By Speer M.C.  

Human Molecular Genetics, Vol. 7, Iss. 5, 1998-05 ,pp. : 807-812

Oxford University Press

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A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

By Munier F.L.  

Human Molecular Genetics, Vol. 12, Iss. 6, 2003-03 ,pp. : 585-594

Oxford University Press

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Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice

By Li C-L.   Deng C-X.   Iwata T.   Francomano C.A.  

Human Molecular Genetics, Vol. 10, Iss. 12, 2001-06 ,pp. : 1255-1264

Oxford University Press

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Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro

By Kramerova I.   Kudryashova E.   Spencer Melissa J.  

Human Molecular Genetics, Vol. 13, Iss. 13, 2004-07 ,pp. : 1373-1388

Oxford University Press

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