CTNS Mutations in African American Patients with Cystinosis

By Kleta R.   Anikster Y.   Lucero C.   Shotelersuk V.   Huizing M.   Bernardini I.   Park M.   Thoene J.   Schneider J.   Gahl W.A.  

Molecular Genetics and Metabolism, Vol. 74, Iss. 3, 2001-11 ,pp. : 332-337

Academic Press

Access to resources Recommend Favorite

Novel mutations in the PATCHED gene in basal cell nevus syndrome

By Lam C-W.   Leung C-Y.   Lee K-C.   Xie J.   Lo F-M.   Au T-S.   Tong S-F.   Poon M-K.   Chan L-Y.   Luk N-M.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 57-61

Academic Press

Access to resources Recommend Favorite

At Least Six Different Mutations in HEXA Gene Cause Tay-Sachs Disease among the Turkish Population

By Özkara H.A.   Navon R.  

Molecular Genetics and Metabolism, Vol. 65, Iss. 3, 1998-11 ,pp. : 250-253

Academic Press

Access to resources Recommend Favorite

Analysis of Multiple Mutations in the hALG6 Gene in a Patient with Congenital Disorder of Glycosylation Ic

By Westphal V.   Schottstädt C.   Marquardt T.   Freeze H.H.  

Molecular Genetics and Metabolism, Vol. 70, Iss. 3, 2000-07 ,pp. : 219-223

Academic Press

Access to resources Recommend Favorite

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

By Dey R.   Aral B.   Abitbol M.   Marsac C.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 4, 2002-08 ,pp. : 344-347

Academic Press

Access to resources Recommend Favorite