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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Neurol Genet
Hlavní autoři: Balicza, Peter, Bencsik, Renata, Lengyel, Andras, Gal, Aniko, Grosz, Zoltan, Csaban, Dora, Rudas, Gabor, Danics, Krisztina, Kovacs, Gabor G., Molnar, Maria Judit
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2020
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7577556/
https://ncbi.nlm.nih.gov/pubmed/33134513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000515
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky