Open AccessISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins
Author(s) -
Alessandra Torraco,
Oliver Stehling,
Claudia Stümpfig,
Ralf Rösser,
Domenico De Rasmo,
Giuseppe Fiermonte,
Daniela Verrigni,
Teresa Rizza,
Angelo Vozza,
Michela Di Nottia,
Daria Diodato,
Diego Martinelli,
Fiorella Piemonte,
Carlo DionisiVici,
Enrico Bertini,
Roland Lill,
Rosalba Carrozzo
Publication year - 2018
Publication title -
human molecular genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddy273
Subject(s) - leukodystrophy , biology , mutation , genetics , gene , pathology , disease , medicine
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