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Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Perrine PennamenAngèle Tingaud-SequeiraIveta GazovaMargaret KeighrenLisa McKieSandrine MarlinSouad Gherbi HalemJosseline KaplanCédric DelevoyeDidier LacombeClaudio PlaisantVincent MichaudEulalie LasseauxSophie JaverzatIan JacksonBenoit Arveiler
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
DCT is the gene for a new type of oculocutaneous albinism that we propose to name OCA8.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • gene expression
  • transcription factor