A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

By Monnier Nicole  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1171-1178

Oxford University Press

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The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

By Gloeckner Christian Johannes   Kinkl Norbert   Schumacher Annette   Braun Ralf J.   O'Neill Eric   Meitinger Thomas   Kolch Walter   Prokisch Holger   Ueffing Marius  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 223-232

Oxford University Press

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The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus

By Carrel Tessa  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1937-1942

Oxford University Press

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Ocular defects associated with a null mutation in the mouse arylamine N -acetyltransferase 2 gene

By Wakefield Larissa   Long Hilary   Lack Nathan   Sim Edith  

Mammalian Genome, Vol. 18, Iss. 4, 2007-04 ,pp. : 270-276

Springer Publishing Company

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Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

By Tammachote Rachaneekorn   Hommerding Cynthia J.   Sinders Rachel M.   Miller Caroline A.   Czarnecki Peter G.   Leightner Amanda C.   Salisbury Jeffrey L.   Ward Christopher J.   Torres Vicente E.   Gattone Vincent H.   Harris Peter C.  

Human Molecular Genetics, Vol. 18, Iss. 17, 2009-09 ,pp. : 3311-3323

Oxford University Press

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