Your browser doesn't support javascript.
loading
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Oda, Hirotsugu; Sato, Tatsuhiro; Kunishima, Shinji; Nakagawa, Kenji; Izawa, Kazushi; Hiejima, Eitaro; Kawai, Tomoki; Yasumi, Takahiro; Doi, Hiraku; Katamura, Kenji; Numabe, Hironao; Okamoto, Shinya; Nakase, Hiroshi; Hijikata, Atsushi; Ohara, Osamu; Suzuki, Hidenori; Morisaki, Hiroko; Morisaki, Takayuki; Nunoi, Hiroyuki; Hattori, Seisuke; Nishikomori, Ryuta; Heike, Toshio.
  • Oda H; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Sato T; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences (RIKEN-IMS), Yokohama, Japan.
  • Kunishima S; Division of Biochemistry, School of Pharmaceutical Science, Kitasato University, Tokyo, Japan.
  • Nakagawa K; Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
  • Izawa K; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Hiejima E; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Kawai T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Yasumi T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Doi H; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Katamura K; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Numabe H; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Okamoto S; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Nakase H; Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan.
  • Hijikata A; Department of Surgery (Hepato-Biliary-Pancreatic and Transplantation), Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Ohara O; Division of Pediatric Surgery, Kyoto University Hospital, Kyoto, Japan.
  • Suzuki H; Department of Gastroenterology and Hepatology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Morisaki H; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences (RIKEN-IMS), Yokohama, Japan.
  • Morisaki T; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences (RIKEN-IMS), Yokohama, Japan.
  • Nunoi H; Department of Human Genome Research, Kazusa DNA Research Institute, Chiba, Japan.
  • Hattori S; Department of Morphological and Biomolecular Research, Nippon Medical School, Tokyo, Japan.
  • Nishikomori R; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
  • Heike T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
Eur J Hum Genet ; 24(3): 408-14, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26059841
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exones / Filaminas / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exones / Filaminas / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2016 Tipo del documento: Article