Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms

By Ramsay Andrew J.   Quesada Victor   Sanchez Mayka   Garabaya Cecilia   Sard Mara P.   Baiget Montserrat   Remacha Angel   Velasco Gloria   Lpez-Otn Carlos  

Human Molecular Genetics, Vol. 18, Iss. 19, 2009-10 ,pp. : 3673-3683

Oxford University Press

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Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency

By Friedrich Ulrike   Myers Connie A.   Fritsche Lars G.   Milenkovich Andrea   Wolf Armin   Corbo Joseph C.   Weber Bernhard H.F.  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1387-1399

Oxford University Press

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Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

By Pichler Irene   Minelli Cosetta   Sanna Serena   Tanaka Toshiko   Schwienbacher Christine   Naitza Silvia   Porcu Eleonora   Pattaro Cristian   Busonero Fabio   Zanon Alessandra   Maschio Andrea   Melville Scott A.   Grazia Piras Maria   Longo Dan L.   Guralnik Jack   Hernandez Dena   Bandinelli Stefania   Aigner Elmar   Murphy Anthony T.   Wroblewski Victor   Marroni Fabio   Theurl Igor   Gnewuch Carsten   Schadt Eric   Mitterer Manfred   Schlessinger David   Ferrucci Luigi   Witcher Derrick R.   Hicks Andrew A.   Weiss Gnter   Uda Manuela   Pramstaller Peter P.  

Human Molecular Genetics, Vol. 20, Iss. 6, 2011-03 ,pp. : 1232-1240

Oxford University Press

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Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk

By Chen Xiaowei   Weaver JoEllen   Bove Betsy A.   Vanderveer Lisa A.   Weil Susan C.   Miron Alexander   Daly Mary B.   Godwin Andrew K.  

Human Molecular Genetics, Vol. 17, Iss. 9, 2008-05 ,pp. : 1336-1348

Oxford University Press

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Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes

By Qi Lu   Cornelis Marilyn C.   Kraft Peter   Stanya Kristopher J.   Linda Kao W.H.   Pankow James S.   Dupuis Jose   Florez Jose C.   Fox Caroline S.   Par Guillaume   Sun Qi   Girman Cynthia J.   Laurie Cathy C.   Mirel Daniel B.   Manolio Teri A.   Chasman Daniel I.   Boerwinkle Eric   Ridker Paul M.   Hunter David J.   Meigs James B.   Lee Chih-Hao   van Dam Rob M.   Hu Frank B.  

Human Molecular Genetics, Vol. 19, Iss. 13, 2010-07 ,pp. : 2706-2715

Oxford University Press

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