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POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Akiba, Kazuhisa; Hasegawa, Yukihiro; Katoh-Fukui, Yuko; Terao, Miho; Takada, Shuji; Hasegawa, Tomonobu; Fukami, Maki; Narumi, Satoshi.
Affiliation
  • Akiba K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hasegawa Y; Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Katoh-Fukui Y; Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Terao M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Takada S; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hasegawa T; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Fukami M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Endocrinology ; 164(2)2022 12 19.
Article in En | MEDLINE | ID: mdl-36427334
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dwarfism / Transcription Factor Pit-1 / Hypopituitarism Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Endocrinology Year: 2022 Document type: Article Affiliation country: Japan Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dwarfism / Transcription Factor Pit-1 / Hypopituitarism Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Endocrinology Year: 2022 Document type: Article Affiliation country: Japan Country of publication: United States