Identification of Two Novel Mutations in the Hydroxymethylbilane Synthase Gene in Three Patients from Two Unrelated Families with Acute Intermittent Porphyria

By  

Human Heredity, Vol. 48, Iss. 1, 1998-01 ,pp. : 24-29

Karger

Access to resources Recommend Favorite

Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

By  

Human Heredity, Vol. 50, Iss. 4, 2000-04 ,pp. : 247-250

Karger

Access to resources Recommend Favorite

Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

By  

Human Heredity, Vol. 54, Iss. 2, 2003-01 ,pp. : 69-81

Karger

Access to resources Recommend Favorite

Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria

By Deybach Jean-Charles   Puy Hervé   Robréau Anne-Marie   Lamoril Jérôme   Da Silva Vasco   Grandchamp Bernard   Nordmann Yves  

Human Molecular Genetics, Vol. 5, Iss. 3, 1996-01 ,pp. : 407-410

Oxford University Press

Access to resources Recommend Favorite

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria

By Villiers J. Nico P. de   Hillermann Renate   Loubser Lynzie   Kotze Maritha J.   Simon M.   Edwards C.Q.   Powell L.W.   Feder J.N.   Jazwinska E.C.   de Villiers J.N.P.   Aguilar-Martinez P.   Beutler E.   Roberts A.G.   Bonkovsky H.L.   Sampietro M.   Hift R.J.   Elder G.H.   McNamara L.   Merryweather-Clarke A.T.   Dean G.   Meissner P.N.   Warnich L.   Day R.S.   de Villiers J.N.P.   Mura C.   Beutler E.   Monaghan K.G.   Kotze M.J.   Grabczynska S.A.   Bothwell T.H.   Ponka P.   Smith A.G.   Elder G.H.   Feder J.N.   Hift R.J.   Parkkila S.   Burt M.J.   Bacon B.R.   Miller S.A.   Kotze M.J.  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1517-1522

Oxford University Press

Access to resources Recommend Favorite