Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT

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Bibliographic Details
Published inJournal of dermatology Vol. 42; no. 12; pp. 1212 - 1214
Main Authors Itoh, Katsuhiko, Kako, Tomoko, Suzuki, Naofumi, Sakurai, Naoto, Sugiyama, Kenji, Yamanishi, Kiyofumi
Format Journal Article
LanguageEnglish
Published England Blackwell Publishing Ltd 01.12.2015
Wiley Subscription Services, Inc
Subjects
Asian Continental Ancestry Group - genetics
Fatal Outcome
Homozygote
Humans
Infant
Japan
Male
Mutation
Netherton Syndrome - genetics
Phenotype
Proteinase Inhibitory Proteins, Secretory - genetics
Serine Peptidase Inhibitor Kazal-Type 5
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Bibliography:Table S1 Panel of target genes used for next-generation sequencing* Table S2 Antibodies used for immunohistochemistry
JSPS KAKENHI - No. 26461668
ArticleID:JDE13090
ark:/67375/WNG-G6LQ0PKF-C
istex:29E5819224C9D814E54F44A4CC6A1C7FEC04D2B1
ISSN:0385-2407
1346-8138
DOI:10.1111/1346-8138.13090