Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease-Reference-Cited by-同舟云学术

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

Published:2019-07-26 Issue:11 Volume:40 Page:1924-1938
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gardner Emily¹,Bailey Mitch²,Schulz Angela³,Aristorena Mikel¹,Miller Nicole²,Mole Sara E.¹^ORCID

Affiliation:

1. UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health University College London London United Kingdom

2. Global Scientific Affairs BioMarin Pharmaceutical Inc Novato California

3. Department of Paediatrics University Medical Center Hamburg‐Eppendorf Hamburg Germany

Funder

BioMarin Pharmaceutical

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23860

Reference71 articles.

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3. Different molecular mechanisms involved in spontaneous and oxidative stress‐induced mitochondrial fragmentation in tripeptidyl peptidase‐1 (TPP‐1)‐deficient fibroblasts;Beersel G.;Bioscience Reports,2013

4. Prenatal testing for late infantile neuronal ceroid lipofuscinosis

5. Clinical presentation and molecular characterization of children with neuronal ceroid lipofuscinosis (NCL I & II) from India;Bhavsar R.;Journal of Inherited Metabolic Disease,2016

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