New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

By Groß U.   Puy H.   Doss M.   Robreau A.M.   Nordmann Y.   Doss M.O.   deybach J.C.  

Molecular and Cellular Probes, Vol. 13, Iss. 6, 1999-12 ,pp. : 443-447

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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

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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

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Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization,for the detection of mutations in four human genes

By Rossetti S.   Corra S.   Biasi M.O.   Turco A.E.   Pignatti P.F.  

Molecular and Cellular Probes, Vol. 9, Iss. 3, 1995-03 ,pp. : 195-200

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3-Hydroxy-3-Methylglutaryl CoA Lyase (HL): Mouse and Human HL Gene (HMGCL) Cloning and Detection of Large Gene Deletions in Two Unrelated HL-Deficient Patients

By Wang S.P.   Robert M.F.   Gibson K.M.   Wanders R.J.A.   Mitchell G.A.  

Genomics, Vol. 33, Iss. 1, 1996-04 ,pp. : 99-104

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