Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

By Thiart R.   Loubser O.   de Villiers J.N.P.   Santos M.   Kotze M.J.  

Molecular and Cellular Probes, Vol. 11, Iss. 6, 1997-12 ,pp. : 457-458

Academic Press

Access to resources Recommend Favorite

Genetic heterogeneity among New Zealand species of hydrothermal vent mussels (Mytilidae: Bathymodiolus )

By Smith P.  

Marine Biology, Vol. 144, Iss. 3, 2004-03 ,pp. : 537-545

Springer Publishing Company

Access to resources Recommend Favorite

Evidence for Genetic Heterogeneity in X-Linked Familial Exudative Vitreoretinopathy

By Shastry B.S.   Liu X.   Hejtmancik J.F.   Plager D.A.   Trese M.T.  

Genomics, Vol. 44, Iss. 2, 1997-09 ,pp. : 247-248

Academic Press

Access to resources Recommend Favorite

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

By Winn M.P.   Conlon P.J.   Lynn K.L.   Howell D.N.   Slotterbeck B.D.   Smith A.H.   Graham F.L.   Bembe M.   Quarles L.D.   Pericak-Vance M.A.   Vance J.M.   On Behalf of the International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis  

Genomics, Vol. 58, Iss. 2, 1999-06 ,pp. : 113-120

Elsevier

Access to resources Recommend Favorite

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families

By Roll P.   Massacrier A.   Pereira S.   Robaglia-Schlupp A.   Cau P.   Szepetowski P.  

Gene, Vol. 285, Iss. 1, 2002-02 ,pp. : 141-148

Elsevier

Access to resources Recommend Favorite