Next-generation diagnostics for inherited skin disorders.
J Invest Dermatol
; 131(10): 1971-3, 2011 Oct.
Article
en En
| MEDLINE
| ID: mdl-21918571
ABSTRACT
Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
/
Regulación de la Expresión Génica
/
Albinismo Oculocutáneo
/
Análisis de Secuencia de ADN
/
Glucosa-6-Fosfatasa
/
Antígenos de Neoplasias
/
Neutropenia
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
J Invest Dermatol
Año:
2011
Tipo del documento:
Article
País de afiliación:
Reino Unido