Related content

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

Mutations in the Δ 1 -pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

By Geraghty M.T.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1411-1415

Oxford University Press

Access to resources Recommend Favorite

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

By Bowne S.J.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 559-568

Oxford University Press

Access to resources Recommend Favorite

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

By Brown Ruth   Head Rosemary   Boubriak Ivan   Leonard James   Thomas Neil   Brown Garry  

Human Genetics, Vol. 115, Iss. 2, 2004-07 ,pp. : 123-127

Springer Publishing Company

Access to resources Recommend Favorite

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase ( SCAD ) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria

By Bhala A.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 619-627

Oxford University Press

Access to resources Recommend Favorite