A synonymous mutation in SPINK5 exon 11 causes Netherton...

Journal of Human Genetics 2012 / 5 Vol. 57; Iss. 5

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

Fortugno, Paola, Grosso, Fabiana, Zambruno, Giovanna, Pastore, Serena, Faletra, Flavio, Castiglia, Daniele
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Volume:
57
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2012.22
Date:
May, 2012
File:
PDF, 314 KB
english, 2012
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