Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations

Title
Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations
Authors
Keywords
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Journal
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume 132, Issue 3, Pages 575-582
Publisher
Elsevier BV
Online
2011-11-17
DOI
10.1038/jid.2011.366

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