TY  - GEN
AU  - Tüysüz,Beyhan
AU  - Ojalvo,David
AU  - Mat,Cem
AU  - Zambruno,Giovanna
AU  - Covaciu,Claudia
AU  - Castiglia,Daniele
AU  - D'Alessio,Marina
TI  - A new SPINK5 donor splice site mutation in siblings with Netherton syndrome
SN  - 1651-2057
PY  - 2010///0408
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Netherton Syndrome
KW  - genetics
KW  - Pedigree
KW  - Phenotype
KW  - Proteinase Inhibitory Proteins, Secretory
KW  - RNA Splice Sites
KW  - Serine Peptidase Inhibitor Kazal-Type 5
KW  - Skin
KW  - pathology
KW  - Turkey
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.2340/00015555-0769
ER  -