Detection of Gene Mutations in a Family of Congenital Atrichia with Papular Lesions / 中华皮肤科杂志
Chinese Journal of Dermatology
;
(12)2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-526023
ABSTRACT
Objective To detect gene mutations in a family of congenital atrichia with papular lesions (APL). Methods Polymerase chain reaction and DNA sequencing were used to search for mutations in the HR gene (a causative gene of APL), the CJB6 gene, and the CDSN gene. Results No mutation was found in these three genes except for single nucleotide polymorphisms (SNPs) in the HR and CDSN genes. Conclusion No mutation is identified in the HR, CJB6 or CDSN gene in this family affected by congenital APL.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Dermatology
Ano de publicação:
2003
Tipo de documento:
Artigo
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