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

• Mitsuko Nakashima

• Kyoko Takano

• Hitoshi Osaka

Journal

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 59 (8), 471-474, 2014-08

  Tokyo : Springer Nature

Details

• CRID: 1522262180035077632
• NII Article ID: 40020171747
• NII Book ID: AA11206160
• ISSN: 14345161
• NDL BIB ID: 025732114
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I025732114
• Web Site: 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