Výsledky vyhledávání - "Khadra Mohamoud"

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement

Autor: Maria Alice Donati, Margherita Protasoni, Claudio Bruno, Alan J. Robinson, Aurelio Reyes, Khadra Mohamoud, Anna Allegri, Mariasavina Severino, Massimo Zeviani, Caterina Garone

NUBPL (Nucleotide-binding protein like) protein encodes a member of the Mrp/NBP35 ATP-binding proteins family, deemed to be involved in mammalian complex I (CI) assembly process. Exome sequencing of a patient presenting with infantile-onset hepatopat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86011e2bc46fec57d39167dafb42221
http://hdl.handle.net/11585/715866

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