title: A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tüysüz
authors.forename: David
authors.initials: D
authors.lastname: Ojalvo
authors.forename: Cem
authors.initials: C
authors.lastname: Mat
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zambruno
authors.forename: Claudia
authors.initials: C
authors.lastname: Covaciu
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
authors.forename: Marina
authors.initials: M
authors.lastname: D'Alessio
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D056770:Netherton Syndrome / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D022821:RNA Splice Sites; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D012867:Skin / Q000473:pathology; D014421:Turkey
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; D022821:RNA Splice Sites; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5