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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


The full text of this item is currently under embargo and cannot be made publicly available until 28/11/2020.

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

Pages: Epub ahead of print

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


DOI: 10.1055/s-0039-3400979

PubMed id: 31779033


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