Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

Details 詳細情報について

• CRID

  1522262180035077632

• NII Article ID

  40020171747

• NII Book ID

  AA11206160

• ISSN

  14345161

• NDL BIB ID

  025732114

• Web Site

  http://id.ndl.go.jp/bib/025732114

  https://ndlsearch.ndl.go.jp/books/R000000004-I025732114

  https://search.jamas.or.jp/link/ui/2015145511

• Text Lang

  en

• NDL Source Classification

  • ZS16(科学技術--医学--人類遺伝学)

• Data Source

  • NDL
  • CiNii Articles