A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.
Tüysüz
Beyhan
B
Ojalvo
David
D
Mat
Cem
C
Zambruno
Giovanna
G
Covaciu
Claudia
C
Castiglia
Daniele
D
D'Alessio
Marina
M
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
D053491:Proteinase Inhibitory Proteins, Secretory; D022821:RNA Splice Sites; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5