Open AccessPontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family
Author(s) -
Tessa van Dijk,
Sabine RudnikSchöneborn,
Jan Senderek,
Ghazaleh Hajmousa,
Hailiang Mei,
Marina Dusl,
Eleonora Aronica,
P. G. Barth,
Frank Baas
Publication year - 2017
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awx147
Subject(s) - spinal muscular atrophy , identification (biology) , medicine , hypoplasia , anatomy , pathology , biology , disease , botany
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