1.
Journal of Chinese Physician
; (12): 491-494, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-609353
RESUMO
Objective To explore mutation diagnosis and discuss the pathogenic and clinical characteristics of neurofibromatosis type 1 (NF1).Methods DNA sequencing combined with denaturing highperformance liquid chromatography (DHPLC) method was used to diagnose patients and parents.Results A new nonsense mutations c.503C > G(p.S168 *) was identified.Conclusions NF1 is a rare autosomal dominant genetic disease.Most of them are caused by new mutations.Genetic diagnosis of sporadic cases is very important for treatment and the future generations.