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...

Description complète

Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 41(2003), 3 vom: 02. März, Seite 223-6
Auteur principal: Feng, Jian-hua (Auteur)
Autres auteurs: Ding, Mei-ping, Yang, Cui-wei
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 9007-49-2