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Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy

Lookup NU author(s): Dr Francesco Bruni, Dr Langping He, Professor Robert Taylor, Professor Zofia Chrzanowska-Lightowlers

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This is the authors' accepted manuscript of an article that has been published in its final definitive form by Georg Thieme Verlag, 2020.

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Publication metadata

Author(s): VanEyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ

Publication type: Article

Publication status: Published

Journal: Neuropediatrics

Year: 2020

Volume: 51

Issue: 03

Pages: 178-184

Print publication date: 01/05/2020

Online publication date: 28/11/2019

Acceptance date: 04/10/2019

Date deposited: 08/01/2020

ISSN (print): 0174-304X

ISSN (electronic): 1439-1899

Publisher: Georg Thieme Verlag

URL: https://doi.org/10.1055/s-0039-3400979

DOI: 10.1055/s-0039-3400979

PubMed id: 31779033


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