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https://olympias.lib.uoi.gr/jspui/handle/123456789/23075
Title: | Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations |
Institution and School/Department of submitter: | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής |
URI: | https://olympias.lib.uoi.gr/jspui/handle/123456789/23075 |
ISSN: | 1523-1747 |
Link: | http://www.ncbi.nlm.nih.gov/pubmed/22089833 |
Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ |
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