A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family

By Sun Yaxun   Zhang Ping   Li Xuebin   Zhang Haicheng   Li Jiwen   Liu Gang   Guo Jihong  

Scandinavian Cardiovascular Journal, Vol. 43, Iss. 3, 2009-06 ,pp. : 181-186

Informa Healthcare

Access to resources Recommend Favorite

A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects

By Möller Thomas   Leren Trond P.   Eiklid Kristin L.   Holmstrøm Henrik   Fredriksen Per Morten   Thaulow Erik  

Scandinavian Cardiovascular Journal, Vol. 44, Iss. 6, 2010-12 ,pp. : 331-336

Informa Healthcare

Access to resources Recommend Favorite

Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype

By Kurnik Karin   Bartsch Ingrid   Maul-Pavicic Andrea   Ehl Stephan   Sandrock-Lang Kirstin   Bidlingmaier Christoph   Rombach Nina   Busse Anja   Belohradsky Bernd H.   Müller-Höcker Josef   Aslanidis Charalampos   Schmitz Gerd   Zieger Barbara  

Platelets, Vol. 24, Iss. 7, 2013-11 ,pp. : 538-543

Informa Healthcare

Access to resources Recommend Favorite

A Novel Mutation in Ca²⁺ -Sensing Receptor Gene in Familial Hypocalciuric Hypercalcemia

By Nakayama T.   Minato M.   Nakagawa M.   Soma M.   Tobe H.   Aoi N.   Kosuge K.   Sato M.   Ozawa Y.   Kanmatsuse K.   Kokubun S.  

Endocrine Journal, Vol. 15, Iss. 3, 2001-08 ,pp. : 277-282

Humana Press, Inc

Access to resources Recommend Favorite

A Novel Splice Acceptor Site Mutation of Protein S Gene in Affected Individuals with Type I Protein S Deficiency: Allelic Exclusion of the Mutant Gene

By Nakahara M.   Iida H.   Urata M.   Fujise M.   Wakiyama M.   Kinoshita S.   Tsuda H.   Okamura T.   Yao K.   Yao T.   Hamasaki N.  

Thrombosis Research, Vol. 101, Iss. 5, 2001-03 ,pp. : 387-393

Elsevier

Access to resources Recommend Favorite