Related content

A Rare Homozygous Missense Mutation in ATP7B Exon 19 in a Case of Wilson Disease

By  

European Neurology, Vol. 51, Iss. 1, 2004-01 ,pp. : 52-54

Karger

Access to resources Recommend Favorite

Familial Hypertrophic Cardiomyopathy Associated with a Novel Missense Mutation Affecting the ATP-binding Region of the Cardiac Beta-myosin Heavy Chain

By Bundgaard H.   Havndrup O.   Andersen P.S.   Larsen L.A.   Brandt N.J.   Vuust J.   Kjeldsen K.   Christiansen M.  

Journal of Molecular and Cellular Cardiology, Vol. 31, Iss. 4, 1999-04 ,pp. : 745-750

Academic Press

Access to resources Recommend Favorite

A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members

By Milman N.   Ursin K.   Rødevand E.   Nielsen F. C.   Hansen T. V. O.  

Scandinavian Journal of Rheumatology, Vol. 38, Iss. 3, 2009-01 ,pp. : 190-197

Informa Healthcare

Access to resources Recommend Favorite

A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects

By Möller Thomas   Leren Trond P.   Eiklid Kristin L.   Holmstrøm Henrik   Fredriksen Per Morten   Thaulow Erik  

Scandinavian Cardiovascular Journal, Vol. 44, Iss. 6, 2010-12 ,pp. : 331-336

Informa Healthcare

Access to resources Recommend Favorite

A Novel Mutation in the Arylsulfatase A Gene Associated with Adult-Onset Metachromatic Leukodystrophy without Clinical Evidence of Neuropathy

By  

European Neurology, Vol. 60, Iss. 6, 2008-10 ,pp. : 310-311

Karger

Access to resources Recommend Favorite