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A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa
Author(s) -
Szczałuba K.,
Szymańska K.,
Rydzanicz M.,
Ciara E.,
Walczak A.,
PiekutowskaAbramczuk D.,
Kosińska J.,
Jacoszek A.,
Czerska K.,
Biernacka A.,
LaureKamionowska M.,
Gasperowicz P.,
Pronicka E.,
Płoski R.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13133
Subject(s) - levodopa , mutation , loss function , function (biology) , genetics , medicine , biology , neuroscience , parkinson's disease , disease , phenotype , gene
Graphical summary of ‘A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa’ by Szczałuba et al..