Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

By Sun Mei  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2471-2478

Oxford University Press

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X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2 , the Gene Encoding the Liver α Subunit of Phosphorylase Kinase

By Hendrickx Jan   Dams Erna   Coucke Paul   Lee Philip   Fernandes John   Willems Patrick J.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 649-652

Oxford University Press

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

By Weil Dominique  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

Oxford University Press

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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

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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ 1 -pyrroline-5-carboxylate synthase

By Baumgartner Matthias R.  

Human Molecular Genetics, Vol. 9, Iss. 19, 2000-11 ,pp. : 2853-2858

Oxford University Press

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