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Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK 5 c.375_376del AT
Author(s) -
Itoh Katsuhiko,
Kako Tomoko,
Suzuki Naofumi,
Sakurai Naoto,
Sugiyama Kenji,
Yamanishi Kiyofumi
Publication year - 2015
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13090
Subject(s) - phenotype , genetics , mutation , gene , biology