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Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

OBJECTIVE: Our aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity. METHODS: Targeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-asso...

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Detalles Bibliográficos
Autores principales:	Balicza, Peter, Bencsik, Renata, Lengyel, Andras, Gal, Aniko, Grosz, Zoltan, Csaban, Dora, Rudas, Gabor, Danics, Krisztina, Kovacs, Gabor G., Molnar, Maria Judit
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577556/ https://www.ncbi.nlm.nih.gov/pubmed/33134513 http://dx.doi.org/10.1212/NXG.0000000000000515

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