Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation-Reference-Cited by-同舟云学术

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

Published:2017-05-18 Issue:3 Volume:92 Page:306-317
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Peña-Quintana L.¹²,Scherer G.³,Curbelo-Estévez M.L.¹,Jiménez-Acosta F.⁴,Hartmann B.³,La Roche F.⁵,Meavilla-Olivas S.⁶,Pérez-Cerdá C.⁷,García-Segarra N.⁸,Giguère Y.⁹,Huppke P.¹⁰,Mitchell G.A.¹¹,Mönch E.¹²,Trump D.¹³,Vianey-Saban C.¹⁴,Trimble E.R.¹⁵,Vitoria-Miñana I.¹⁶,Reyes-Suárez D.¹,Ramírez-Lorenzo T.¹⁷,Tugores A.¹⁷^ORCID

Affiliation:

1. Department of Pediatrics; Complejo Hospitalario Universitario Insular-Materno Infantil; Las Palmas de Gran Canaria Spain

2. CIBER OBN; Universidad de Las Palmas de Gran Canaria; Las Palmas de Gran Canaria Spain

3. Institute of Human Genetics; University of Freiburg; Freiburg Germany

4. Mediteknia Dermatology and Hair Transplant Clinic, Medical Pathology Group; University of Las Palmas de Gran Canaria; Las Palmas de Gran Canaria Spain

5. Department of Endocrinology and Nutrition; Complejo Hospitalario Universitario Insular-Materno Infantil; Las Palmas de Gran Canaria Spain

6. Section of Gastroenterology, Hepatology and Nutrition; Metabolopathies Unit Hospital Sant Joan de Déu; Barcelona Spain

7. Centro de Diagnóstico de Enfermedades Moleculares; Universidad Autónoma de Madrid, CIBERER, IdiPAZ; Madrid Spain

8. Center for Molecular Diseases; Centre Hospitalier Universitaire Vaudois; Lausanne Switzerland

9. 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

10. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology; University Medical Center Göttingen; Göttingen Germany

11. Division of Medical Genetics, Department of Pediatrics; CHU Sainte-Justine and Université de Montréal; Montréal Canada

12. Charité University Medical Center; Campus Virchow-Klinikum; Berlin Germany

13. Department of Medical Genetics; Addenbrooke's Hospital; Cambridge UK

14. Centre de Biologie Est; CHU Lyon; Bron France

15. Department of Clinical Biochemistry; Royal Victoria Hospital; Belfast UK

16. Unidad de Nutrición y Metabolopatías; Hospital La Fe; Valencia Spain

17. Research Unit; Complejo Hospitalario Universitario Insular-Materno Infantil; Las Palmas de Gran Canaria Spain

Funder

Servicio Canario de Salud

Deutsche Forschungsgemeinschaft

Publisher