Mutation analysis of SCNN1B in a family with Liddle's syndrome

By Wang Weiqing   Zhou Weiwei   Jiang Lei   Cui Bin   Ye Lei   Su Tingwei   Wang Jiguang   Li Xiaoying   Ning Guang  

Endocrine Journal, Vol. 29, Iss. 3, 2006-06 ,pp. : 385-390

Humana Press, Inc

Access to resources Recommend Favorite

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region

By  

Medical Principles and Practice, Vol. 25, Iss. 6, 2016-08 ,pp. : 580-582

Karger

Access to resources Recommend Favorite

Multiplicity of mutation in UDP-glucuronosyltransferase 1 * 1 gene in Gilbert's syndrome

By Kamisako T.   Soeda Y.   Yamamoto K.   Sato H.   Adachi Y.  

International Hepatology Communications, Vol. 6, Iss. 5, 1997-02 ,pp. : 249-252

Elsevier

Access to resources Recommend Favorite

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation

By  

Case Reports in Neurology, Vol. 8, Iss. 3, 2016-09 ,pp. : 193-198

Karger

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