Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

L Huopaniemi, H Tyynismaa, A Rantala, T Rosenberg, T Alitalo

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalHuman Mutation
Volume16
Pages (from-to)307-314
Number of pages8
ISSN1059-7794
Publication statusPublished - 2000
MoE publication typeA1 Journal article-refereed

Fields of Science

  • retinoschisis, X-linked
  • genomic deletion
  • RS1
  • retinochisis
  • PPEF-1
  • serine-threonine phosphatase
  • STK9
  • serine-threonine kinase
  • LINKED JUVENILE RETINOSCHISIS
  • RETINAL-DEGENERATION
  • FOUNDER MUTATIONS
  • KINASE GENE
  • XLRS1 GENE
  • EXPRESSION
  • PROTEIN
  • PHOSPHATASE
  • PROMOTER
  • CLONING
  • 118 Biological sciences

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