A Novel Human Catalase Mutation (358 T_del) Causing Japanese-type Acatalasemia

By Hirono A.   Sasaya-Hamada F.   Kanno H.   Fujii H.   Yoshida T.   Miwa S.  

Blood Cells, Molecules, and Diseases, Vol. 21, Iss. 3, 1995-12 ,pp. : 232-234

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A New Type of Inherited Catalase Deficiencies: Its Characterization and Comparison to the Japanese and Swiss Type of Acatalasemia

By Góth L.  

Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 2, 2001-02 ,pp. : 512-517

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A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

By Malloy P.J.   Zhu W.   Bouillon R.   Feldman D.  

Molecular Genetics and Metabolism, Vol. 77, Iss. 4, 2002-12 ,pp. : 314-318

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A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

By Williams S.L.   Taanman J-W.   Hansíková H.   Houšt'ková H.   Chowdhury S.   Zeman J.   Houštěk J.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 340-343

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Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

By Reissner K.   Tayebi N.   Stubblefield B.K.   Koprivica V.   Blitzer M.   Holleran W.   Cowan T.   Almashanu S.   Maddalena A.   Karson E.M.   Sidransky E.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 4, 1998-04 ,pp. : 281-288

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