Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism
OBJECTIVE: Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by unusual tumor-like growth, termed hamartomas that develop in a variety of tissues and organs. Clinical findings characteristic of TSC include facial angiofibroma, epilepsy and mental retardation. In the las...
Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 41(2003), 3 vom: 02. März, Seite 223-6 |
---|---|
Auteur principal: | |
Autres auteurs: | , |
Format: | Article |
Langue: | Chinese |
Publié: |
2003
|
Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
Sujets: | Comparative Study Journal Article Proteins Repressor Proteins TSC1 protein, human TSC2 protein, human Tuberous Sclerosis Complex 1 Protein Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins DNA |