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A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.
- Source :
-
Acta dermato-venereologica [Acta Derm Venereol] 2010; Vol. 90 (1), pp. 95-6. - Publication Year :
- 2010
- Subjects :
- Child
Child, Preschool
DNA Mutational Analysis
Genetic Predisposition to Disease
Humans
Male
Netherton Syndrome pathology
Pedigree
Phenotype
Serine Peptidase Inhibitor Kazal-Type 5
Skin pathology
Turkey
Mutation
Netherton Syndrome genetics
Proteinase Inhibitory Proteins, Secretory genetics
RNA Splice Sites
Subjects
Details
- Language :
- English
- ISSN :
- 1651-2057
- Volume :
- 90
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Acta dermato-venereologica
- Publication Type :
- Report
- Accession number :
- 20107740
- Full Text :
- https://doi.org/10.2340/00015555-0769