Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase

By Ong P.M.L.   Lanyon W.G.   Graham G.   Hift R.J.   Halkett J.   Moore M.R.   Connor J.M.  

Molecular and Cellular Probes, Vol. 11, Iss. 4, 1997-08 ,pp. : 293-296

Academic Press

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Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12

By Ong P.M.L.   Lanyon W.G.   Moore M.R.   Connor J.M.  

Molecular and Cellular Probes, Vol. 12, Iss. 2, 1998-04 ,pp. : 63-70

Academic Press

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Detection of four mutations in six unrelated South African patients with acute intermittent porphyria

By Ong P.M.L.   Lanyon G.W.   Hift R.J.   Halkett J.   Moore M.R.   Mgone C.S.   Connor M.J.  

Molecular and Cellular Probes, Vol. 10, Iss. 1, 1996-01 ,pp. : 57-61

Academic Press

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Bestrophin Gene Mutations in Patients with Best Vitelliform Macular Dystrophy

By Caldwell G.M.   Kakuk L.E.   Griesinger I.B.   Simpson S.A.   Nowak N.J.   Small K.W.   Maumenee I.H.   Rosenfeld P.J.   Sieving P.A.   Shows T.B.   Ayyagari R.  

Genomics, Vol. 58, Iss. 1, 1999-05 ,pp. : 98-101

Elsevier

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New Mutations in the APC Gene in Familial Adenomatous Polyposis: Detection, Characterization, and Analysis

By Muzaffarova T.   Pospekhova N.   Sachkov I.   Kuz’minov A.   Ginter E.   Karpukhin A.  

Bulletin of Experimental Biology and Medicine, Vol. 139, Iss. 3, 2005-03 ,pp. : 352-354

Springer Publishing Company

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