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The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Jedrzejowska, Maria; Debek, Emilia; Kowalczyk, Bartlomiej; Halat, Paulina; Kostera-Pruszczyk, Anna; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; Rydzanicz, Malgorzata; Gasperowicz, Piotr; Gos, Monika.
Affiliation
  • Jedrzejowska M; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  • Debek E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kowalczyk B; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a St, 01-211, Warsaw, Poland.
  • Halat P; Orthopedic Trauma Department, University Children's Hospital of Cracow, Cracow, Poland.
  • Kostera-Pruszczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Ciara E; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
  • Jezela-Stanek A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Gos M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Muscle Nerve ; 59(1): 129-133, 2019 01.
Article in En | MEDLINE | ID: mdl-30230566
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Muscular Atrophy, Spinal / TRPV Cation Channels / Histidine / Mutation Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Muscle Nerve Year: 2019 Type: Article Affiliation country: Poland
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Muscular Atrophy, Spinal / TRPV Cation Channels / Histidine / Mutation Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Muscle Nerve Year: 2019 Type: Article Affiliation country: Poland