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  1. No Access

    Article

    Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

    The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency,...

    M. Huizing, Y. Anikster, W.A. Gahl in Human Genetics (2000)

  2. No Access

    Article

    Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

    M. Huizing, U. Wendel, W. Ruitenbeek… in Journal of Inherited Metabolic Disease (1998)

  3. No Access

    Article

    Partial hyperploidy of the X-chromosome inDrosophila hydei leading to duplication of male gonadal and genital structures

    Introduction of two doses of the X-chromosomalw mCo duplication next to a normal X-chromosome in males ofD. hydei leads to duplication of testis tissue and structures derived from the male genital disc. The effec...

    F. M. A. van Breugel, M. Huizing in Wilhelm Roux's archives of developmental biology (1985)