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Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.

Nobuyuki AsanoTomoko OkitaShuichiro YasunoMichiya YamaguchiKeisuke KashiwagiTakuro KanekuraYutaka Shimomura
Published in: The Journal of dermatology (2018)
Keyphrases
  • copy number
  • genome wide
  • intellectual disability
  • genome wide identification
  • bioinformatics analysis
  • dna methylation