Mutation analysis for a family affected with von Hippel-Lindau syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 860-863, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-775819
ABSTRACT
OBJECTIVE@#To detect VHL gene mutation in a pedigree affected with von Hippel-Lindau syndrome (VHL).@*METHODS@#Clinical data of the pedigree was reviewed. Patients were subjected to Sanger sequencing to detect mutation of the VHL gene. Structure of pVHL was predicted by 3D modeling using the swiss-model.@*RESULTS@#A novel c.426delT(p.V142fs) [NM_000551] mutation was found in exon 2 of the VHL gene. 3D modeling suggested that the alpha-structure of pVHL is completely absent.@*CONCLUSION@#The novel c.426delT(p.V142fs) mutation probably underlies the VHL in this pedigree.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Éxons
/
Proteína Supressora de Tumor Von Hippel-Lindau
/
Genética
/
Doença de von Hippel-Lindau
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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