α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings

By Nilssen Øivind  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 717-726

Oxford University Press

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Isolation and characterization of the human SCP2 cDNA and chromosomal localization of the gene

By Schalk Johanna A.C.   Offenberg Hildo H.   Peters Erik   Groot Nancy P.B.   Hoovers Jan M.N.   Heyting Christa  

Mammalian Genome, Vol. 10, Iss. 6, 1999-06 ,pp. : 642-644

Springer Publishing Company

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Mannosidase I inhibition rescues the human -sarcoglycan R77C recurrent mutation

By Bartoli Marc   Gicquel Evelyne   Barrault Laetitia   Soheili Tayebeh   Malissen Marie   Malissen Bernard   Vincent-Lacaze Nathalie   Perez Norma   Udd Bjarne   Danos Olivier   Richard Isabelle  

Human Molecular Genetics, Vol. 17, Iss. 9, 2008-05 ,pp. : 1214-1221

Oxford University Press

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Targeted disruption of the lysosomal α -mannosidase gene results in mice resembling a mild form of human α -mannosidosis

By Stinchi Sofia  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1365-1372

Oxford University Press

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Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

By Leclerc D.   Campeau E.   Goyette P.   Adjalla C. E.   Christensen B.   Ross M.   Eydoux P.   Rosenblatt D. S.   Rozen R.   Gravel R. A.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 1867-1874

Oxford University Press

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