Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

By Alfonso Pilar   Aznarez Sofía   Giralt Manuel   Pocovi Miguel   Giraldo Pilar  

Journal of Human Genetics, Vol. 52, Iss. 5, 2007-05 ,pp. : 391-396

Springer Publishing Company

Access to resources Recommend Favorite

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

By Ron Idit   Horowitz Mia  

Human Molecular Genetics, Vol. 14, Iss. 16, 2005-08 ,pp. : 2387-2398

Oxford University Press

Access to resources Recommend Favorite

Testing Gene-Gene Interactions in the Case-Parents Design

By  

Human Heredity, Vol. 71, Iss. 3, 2011-07 ,pp. : 171-179

Karger

Access to resources Recommend Favorite

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

By Lesage Suzanne   Anheim Mathieu   Condroyer Christel   Pollak Pierre   Durif Franck   Dupuits Cline   Viallet Franois   Lohmann Ebba   Corvol Jean-Christophe   Honor Aurlie   Rivaud Sophie   Vidailhet Marie   Drr Alexandra   Brice Alexis   Agid Y.   Bonnet A.-M.   Borg M.   Brice A.   Broussolle E.   Damier Ph.   Deste A.   Drr A.   Durif F.   Lesage S.   Lohmann E.   Martinez M.   Pollak P.   Rascol O.   Tison F.   Tranchant C.   Troiano A.   Vrin M.   Viallet F.   Vidailhet M.  

Human Molecular Genetics, Vol. 20, Iss. 1, 2011-01 ,pp. : 202-210

Oxford University Press

Access to resources Recommend Favorite

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies

By Shevchenko Yuriy O.   Compton John G.   Toro Jorge R.   DiGiovanna John J.   Bale Sherri J.  

Human Genetics, Vol. 106, Iss. 5, 2000-05 ,pp. : 492-499

Springer Publishing Company

Access to resources Recommend Favorite