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Cytoplasmic dynein (ddlc1) mutations cause morphogenetic defects and apoptotic cell death in Drosophila melanogaster.
We report the molecular and genetic characterization of the cytoplasmic dynein light-chain gene, ddlc1, from Drosophila melanogaster. ddlc1 encodes the first cytoplasmic dynein light chainExpand
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A second-generation genetic linkage map of the domestic dog, Canis familiaris.
Purebred strains, pronounced phenotypic variation, and a high incidence of heritable disease make the domestic dog uniquely suited to complement genetic analyses in humans and mice. A comprehensiveExpand
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malvolio, the Drosophila homologue of mouse NRAMP‐1 (Bcg), is expressed in macrophages and in the nervous system and is required for normal taste behaviour.
We report the sequence, expression pattern and mutant phenotype of malvolio (mvl), the Drosophila homologue of mammalian natural resistance‐associated macrophage proteins (NRAMPs). In the mouse, thisExpand
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A linkage map of the canine genome.
A genetic linkage map of the canine genome has been developed by typing 150 microsatellite markers using 17 three-generation pedigrees, composed of 163 F2 individuals. One hundred and thirty-nineExpand
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Myocilin gene implicated in primary congenital glaucoma
Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to onlyExpand
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Wilson's disease: an update
  • S. Das, K. Ray
  • Medicine
  • Nature Clinical Practice Neurology
  • 1 September 2006
Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The disease has an autosomal recessive mode of inheritance, and isExpand
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A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
  • M. Weiss, D. Cole, +4 authors H. Harris
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 1 October 1988
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. ClinicalExpand
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A marine natural product inhibitor of kinesin motors.
Members of the kinesin superfamily of motor proteins are essential for mitotic and meiotic spindle organization, chromosome segregation, organelle and vesicle transport, and many other processes thatExpand
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Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans.
Progressive rod-cone degeneration (prcd) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically is the canine counterpart of retinitis pigmentosa (RP) inExpand
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Detection of single-nucleotide polymorphism.
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