A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy-Reference-Cited by-同舟云学术

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy

Published:2011-01-18 Issue:4 Volume:32 Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Torres‐Torronteras Javier¹²,Rodriguez‐Palmero Agustí³,Pinós Tomàs¹²,Accarino Anna⁴⁵,Andreu Antoni L.¹²,Pintos‐Morell Guillem³,Martíí Ramon¹²

Affiliation:

1. Laboratori of Neuromuscular and Mitochondrial Disorders, Digestive System Research Unit, Institut de Recerca Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain

2. Rare Diseases (CIBERER), ISCIII, Spain

3. Pediatrics Department, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain

4. Digestive System Research Unit, Institut de Recerca Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain

5. Biomedical Network Research Centres on Hepatic and Digestive Disorders (CIBERehd)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21447

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