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1 - 5 of 5 results found for PI4K2A.

  1. Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the...

    BACKGROUND: Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalized connective tissue aging, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn

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  3. Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal...

    Abstract Numerous genes causing autosomal recessive hereditary spastic paraplegia (AR HSP) have been described. Despite this, in many families the causative gene and mutation are unknown. In this study we sequenced the Pi4k2a gene, whose knockout

  4. Chromosomal Instability and Phosphoinositide Pathway Gene Signatures in Glioblastoma...

    Structural rearrangements of chromosome 10 are frequently observed in glioblastoma multiforme and over 80 % of tumour samples archived in the catalogue of somatic mutations in cancer database had gene copy number loss for PI4K2A which encodes

  5. Recent genetic advances in early-onset dystonia

    PURPOSE OF REVIEW: The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering

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