A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome

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Bibliographic Details
Published inActa dermato-venereologica Vol. 90; no. 1; pp. 95 - 96
Main Authors TÜYSÜZ, Beyhan, OJALVO, David, MAT, Cem, ZAMBRUNO, Giovanna, COVACIU, Claudia, CASTIGLIA, Daniele, D'ALESSIO, Marina
Format Journal Article
LanguageEnglish
Published Uppsala Acta dermato-venereologica 2010
Subjects
Biological and medical sciences
Child
Child, Preschool
Dermatology
DNA Mutational Analysis
Dyskeratosis
Genetic Predisposition to Disease
Humans
Male
Medical sciences
Mutation
Netherton Syndrome - genetics
Netherton Syndrome - pathology
Pedigree
Phenotype
Proteinase Inhibitory Proteins, Secretory - genetics
RNA Splice Sites
Serine Peptidase Inhibitor Kazal-Type 5
Skin - pathology
Turkey
Netherton syndrome
Human
Dyskeratosis
Skin disease
Donor
Splicing
Dermatology
Hyperkeratosis
Sibling
Mutation
Genetic disease
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More Information
ISSN:0001-5555
1651-2057
DOI:10.2340/00015555-0769