A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy-Reference-Cited by-同舟云学术

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

Published:2021-01 Issue:1 Volume:8 Page:73-78
ISSN:2352-3042
Container-title:Genes & Diseases
language:en
Short-container-title:Genes & Diseases

Author:

Tavian Daniela,Maggi Lorenzo,Mora Marina^ORCID,Morandi Lucia,Bragato Cinzia,Missaglia Sara^ORCID

Funder

Fondazione Telethon

Publisher

Elsevier BV

Subject

Cell Biology,Genetics(clinical),Molecular Biology,Biochemistry

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5. Autophagy in the CNS and periphery coordinate lipophagy and lipolysis in the Brown adipose tissue and liver;Martinez-Lopez;Cell Metab,2016

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