Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms

By Lux Andreas   Gallione Carol J.   Marchuk Douglas A.  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 745-755

Oxford University Press

Access to resources Recommend Favorite

Structure–function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients

By Lehmann Sylvia G.   Wurtz Jean-Marie   Renaud Jean-Paul   Sassone-Corsi Paolo   Lalli Enzo  

Human Molecular Genetics, Vol. 12, Iss. 9, 2003-05 ,pp. : 1063-1072

Oxford University Press

Access to resources Recommend Favorite

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2

By Abdalla Salma A.   Pece-Barbara Nadia   Vera Sonia   Tapia Esther   Paez Eduardo   Bernabeu Carmelo   Letarte Michelle  

Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1227-1237

Oxford University Press

Access to resources Recommend Favorite

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1

By Pece-Barbara Nadia   Cymerman Urszula   Vera Sonia   Marchuk Douglas A.   Letarte Michelle  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2171-2181

Oxford University Press

Access to resources Recommend Favorite

Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia

By  

Molecular Syndromology, Vol. 4, Iss. 4, 2013-04 ,pp. : 184-196

Karger

Access to resources Recommend Favorite