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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
Mutai, Hideki; Wasano, Koichiro; Momozawa, Yukihide; Kamatani, Yoichiro; Miya, Fuyuki; Masuda, Sawako; Morimoto, Noriko; Nara, Kiyomitsu; Takahashi, Satoe; Tsunoda, Tatsuhiko; Homma, Kazuaki; Kubo, Michiaki; Matsunaga, Tatsuo.
Affiliation
  • Mutai H; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro, Tokyo, Japan.
  • Wasano K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro, Tokyo, Japan.
  • Momozawa Y; Department of Otolaryngology-Head and Neck Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
  • Kamatani Y; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan.
  • Miya F; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan.
  • Masuda S; Kyoto-McGill International Collaborative School in Genomic Medicine, Graduate School of Medicine, Kyoto University, Yoshidakonoecho, Kyoto, Japan.
  • Morimoto N; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan.
  • Nara K; Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
  • Takahashi S; Department of Otorhinolaryngology, National Hospital Organization Mie National Hospital, Tsu, Mie, Japan.
  • Tsunoda T; Department of Otorhinolaryngology, National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Homma K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro, Tokyo, Japan.
  • Kubo M; Department of Otolaryngology-Head and Neck Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
  • Matsunaga T; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan.
PLoS Genet ; 16(4): e1008643, 2020 04.
Article in En | MEDLINE | ID: mdl-32294086

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Solute Carrier Family 12, Member 2 / Protein Domains / Hearing Loss, Sensorineural / Mutation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Infant / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2020 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Solute Carrier Family 12, Member 2 / Protein Domains / Hearing Loss, Sensorineural / Mutation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Infant / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2020 Document type: Article Affiliation country: