Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese : a large cohort study

• Maiko Miyagawa

• Shin-ya Nishio

• Shin-ichi Usami

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 59 (5), 262-268, 2014-05

  Tokyo : Springer Nature

キーワード

• congenital hearing loss
• DFNB4
• enlarged vestibular aqueduct
• goiter
• Pendred syndrome
• SLC26A4

詳細情報

• CRID: 1521699229791831552
• NII論文ID: 40020066511
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 025463197
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I025463197
• Web Site: https://search.jamas.or.jp/link/ui/2015132688
• 本文言語コード: en
• NDL 雑誌分類:
  • ZS16(科学技術--医学--人類遺伝学)
• データソース種別:
  • NDL
  • CiNii Articles