Type II Benign Osteopetrosis (Albers-Schönberg Disease) Caused by a Novel Mutation in CLCN7 Presenting with Unusual Clinical Manifestations

By Letizia C.  

Calcified Tissue International, Vol. 74, Iss. 1, 2004-01 ,pp. : 42-46

Springer Publishing Company

Access to resources Recommend Favorite

A Novel Type of Mutation at the Propeptide Cleavage Site (AlA+1Thr) Causing Symptomatic Protein C Type II Deficiency

By Dodojacek R.   Hofler G.   Leschnik B.   Muntean W.  

Thrombosis Research, Vol. 100, Iss. 1, 2000-10 ,pp. : 109-113

Elsevier

Access to resources Recommend Favorite

A New Mutation of Wilson's Disease P-Type ATPase Gene in a Patient with Cirrhosis and Coombs-Positive Hemolytic Anemia

By Leggio Lorenzo   Addolorato Giovanni   Loudianos Georgios   Abenavoli Ludovico   Lepori Maria   Vecchio Fabio   Rapaccini Gian   Virgiliis Stefano   Gasbarrini Giovanni  

Digestive Diseases and Sciences, Vol. 51, Iss. 1, 2006-01 ,pp. : 34-38

Springer Publishing Company

Access to resources Recommend Favorite

A Novel, Complex Heterozygous Mutation Within Gsα Gene in Patient with McCune-Albright Syndrome

By Song H-D.   Chen F-L.   Shi W-J.   Wang S.   Zhang Q.   Hu R-M.   Chen J-L.  

Endocrine Journal, Vol. 18, Iss. 2, 2002-07 ,pp. : 121-128

Humana Press, Inc

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