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Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Tasdelen, Elifcan; Calame, Daniel G; Akay, Gulsen; Mitani, Tadahiro; Fatih, Jawid M; Herman, Isabella; Du, Haowei; Coban-Akdemir, Zeynep; Marafi, Dana; Jhangiani, Shalini N; Posey, Jennifer E; Gibbs, Richard A; Altiparmak, Taylan; Kutlay, Nüket Yürür; Lupski, James R; Pehlivan, Davut.
Afiliación
  • Tasdelen E; Department of Medical Genetics, Sanliurfa Education and Research Hospital, Sanliurfa, Turkey.
  • Calame DG; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Akay G; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Mitani T; Texas Children's Hospital, Houston, Texas, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Du H; Department of Pediatrics, University of Utah, Salt Lake, Utah, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jhangiani SN; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Posey JE; Texas Children's Hospital, Houston, Texas, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Altiparmak T; Boys Town National Research Hospital, Boys Town, Nebraska, USA.
  • Kutlay NY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Pehlivan D; Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Am J Med Genet A ; 188(7): 2153-2161, 2022 07.
Article en En | MEDLINE | ID: mdl-35332675
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteomielitis / Neuropatías Hereditarias Sensoriales y Autónomas / Péptidos y Proteínas de Señalización Intracelular / Insuficiencia Renal / Proteínas de la Membrana Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteomielitis / Neuropatías Hereditarias Sensoriales y Autónomas / Péptidos y Proteínas de Señalización Intracelular / Insuficiencia Renal / Proteínas de la Membrana Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Turquía