Open AccessPhenotype in an Infant with SOD1 Homozygous Truncating Mutation
Author(s) -
Peter M. Andersen,
Ulrika Nordström,
Konstantinos Tsiakas,
Jessika Johannsen,
Alexander E. Volk,
Tatjana Bierhals,
Per Zetterström,
Stefan L. Marklund,
Maja Hempel,
René Santer
Publication year - 2019
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmc1905039
Subject(s) - sod1 , mutation , phenotype , genetics , biology , gene , mutant
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