Genetic diagnosis of multiple affected tissues in a patient with McCune–Albright syndrome

By Zhou Ji   Sun Li-hao   Cui Bin   Song Huai-dong   Li Xiao-ying   Ning Guang   Liu Jian-min  

Endocrine Journal, Vol. 31, Iss. 2, 2007-04 ,pp. : 212-217

Humana Press, Inc

Access to resources Recommend Favorite

A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene

By Gong Hui  

Endocrine Journal, Vol. 33, Iss. 3, 2008-06 ,pp. : 230-234

Humana Press, Inc

Access to resources Recommend Favorite

Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome

By Vanhoorelbeke K.   Schlammadinger A.   Delville J.-P.   Handsaeme J.   Vandecasteele G.   Vauterin S.   Pradier O.   Wijns W.   Deckmyn H.  

Platelets, Vol. 12, Iss. 2, 2001-03 ,pp. : 114-120

Informa Healthcare

Access to resources Recommend Favorite

A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene

By Ito Shun   Kurasawa Gotaro   Yamamoto Kyoko   Furuta Izumi   Ishihara Fumitake   Kobayashi Keiko   Saheki Takeyori   Matsuura Tomokazu   Yamauchi Masayoshi   Kakinoki Hiroshige  

Journal of Gastroenterology, Vol. 39, Iss. 11, 2004-11 ,pp. : 1115-1117

Springer Publishing Company

Access to resources Recommend Favorite

Identification of a Novel Missense Mutation in the Cardiac beta -myosin Heavy Chain Gene in a Chinese Patient with Sporadic Hypertrophic Cardiomyopathy

By Kuang S.Q.   Yu J.D.   Lu L.   He L.M.   Gong L.S.   Chen S.J.   Chen Z.  

Journal of Molecular and Cellular Cardiology, Vol. 28, Iss. 9, 1996-09 ,pp. : 1879-1883

Academic Press

Access to resources Recommend Favorite