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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana, L; Scherer, G; Curbelo-Estévez, M L; Jiménez-Acosta, F; Hartmann, B; La Roche, F; Meavilla-Olivas, S; Pérez-Cerdá, C; García-Segarra, N; Giguère, Y; Huppke, P; Mitchell, G A; Mönch, E; Trump, D; Vianey-Saban, C; Trimble, E R; Vitoria-Miñana, I; Reyes-Suárez, D; Ramírez-Lorenzo, T; Tugores, A.
Affiliation
  • Peña-Quintana L; Department of Pediatrics, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Scherer G; CIBER OBN, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.
  • Curbelo-Estévez ML; Institute of Human Genetics, University of Freiburg, Freiburg, Germany.
  • Jiménez-Acosta F; Department of Pediatrics, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Hartmann B; Mediteknia Dermatology and Hair Transplant Clinic, Medical Pathology Group, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.
  • La Roche F; Institute of Human Genetics, University of Freiburg, Freiburg, Germany.
  • Meavilla-Olivas S; Department of Endocrinology and Nutrition, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Pérez-Cerdá C; Section of Gastroenterology, Hepatology and Nutrition, Metabolopathies Unit Hospital Sant Joan de Déu, Barcelona, Spain.
  • García-Segarra N; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain.
  • Giguère Y; Center for Molecular Diseases, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
  • Huppke P; Programme québécois de dépistage néonatal sanguin, CHU de Québec, and Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Quebec, Canada.
  • Mitchell GA; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.
  • Mönch E; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Canada.
  • Trump D; Charité University Medical Center, Campus Virchow-Klinikum, Berlin, Germany.
  • Vianey-Saban C; Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
  • Trimble ER; Centre de Biologie Est, CHU Lyon, Bron, France.
  • Vitoria-Miñana I; Department of Clinical Biochemistry, Royal Victoria Hospital, Belfast, UK.
  • Reyes-Suárez D; Unidad de Nutrición y Metabolopatías, Hospital La Fe, Valencia, Spain.
  • Ramírez-Lorenzo T; Department of Pediatrics, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Tugores A; Research Unit, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.
Clin Genet ; 92(3): 306-317, 2017 Sep.
Article in En | MEDLINE | ID: mdl-28255985
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Founder Effect / Tyrosinemias / Genetic Association Studies / Mutation Type of study: Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Spain
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Founder Effect / Tyrosinemias / Genetic Association Studies / Mutation Type of study: Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Spain