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Academic Press

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

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Functional Characterization of the Novel Mutation IVS 8 (-11delC) (-14T>A) in the Intron 8 of the Glucocerebrosidase Gene of Two Italian Siblings with Gaucher Disease Type I

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A novel c.790C>T mutation in RHAG gene encoding the Rh_null phenotype in Japanese

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A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1

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