1.
Annals of Dermatology
; : 222-223, 2015.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-8528
RESUMO
No abstract available.
Assuntos
Ácido Aminolevulínico , Pênfigo Familiar Benigno , Fotoquimioterapia
2.
Chinese Journal of Dermatology
; (12)1994.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-674189
RESUMO
Objective To detect the mutations of ATP2C1 gene in patients with Hailey-Hailey dis- ease (HHD).Methods PCR and direct sequencing were performed in 17 patients and 120 healthy controls to screen the mutations in the exons of ATP2C1 gene.Results Eight mutations were identified in nine probands, including three deletion mutations (nt1464-1487 del/nt1462-1485del,1523delAT,2375delTTGT),three splice site mutations (360—2A→G,1415—2A→T,2243+2T→C) and two missence mutations (C920T and G1942T).None of the above mutations was found in the controls.Conclusion Eight specific novel mutations were identified in nine probands of HHD,which could be causative factors of the disease.