A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia-Reference-Cited by-同舟云学术

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Published:2016-05-25 Issue:3 Volume:91 Page:441-447
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Torraco A.¹,Bianchi M.¹,Verrigni D.¹,Gelmetti V.²,Riley L.³⁴,Niceta M.⁵,Martinelli D.⁶,Montanari A.⁷,Guo Y.³,Rizza T.¹,Diodato D.¹,Di Nottia M.¹,Lucarelli B.⁸,Sorrentino F.⁹,Piemonte F.¹,Francisci S.¹⁰,Tartaglia M.⁵,Valente E.M.¹¹,Dionisi‐Vici C.⁶,Christodoulou J.³⁴¹²,Bertini E.¹,Carrozzo R.¹

Affiliation:

1. Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular MedicineBambino Gesù Children's Hospital, IRCCS Rome Italy

2. Neurogenetics Unit, CSS‐Mendel LaboratoryIRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

3. Genetic Metabolic Disorders Research UnitChildren's Hospital at Westmead Sydney Australia

4. Discipline of Paediatrics & Child HealthUniversity of Sydney Sydney Australia

5. Division of Genetic Disorders and Rare DiseasesBambino Gesù Children's Hospital, IRCCS Rome Italy

6. Division of MetabolismBambino Gesù Children's Hospital, IRCCS Rome Italy

7. Pasteur Institute – Cenci Bolognetti FoundationSapienza University of Rome Rome Italy

8. Stem Cell Transplant Unit, Department of Hematology and OncologyBambino Gesù Children's Hospital, IRCCS Rome Italy

9. UO Talassemici ‐Anemie Rare del Globulo Rosso, Ospedale S Eugenio Rome Italy

10. Department of Biology and Biotechnologies “C. Darwin”Sapienza University of Rome Rome Italy

11. Section of Neurosciences, Department of Medicine and SurgeryUniversity of Salerno Salerno Italy

12. Discipline of Genetic MedicineUniversity of Sydney Sydney Australia

Funder

Telethon

Italian Ministry of Health

Italian Association of Mitochondrial Disease Patients and Families

Australian NHMRC

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12790

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