Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in 224 index patients with TSC and correlate mutation findings with clinical features. Denaturing high-performance liquid chrom...

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Autors principals: Dabora, Sandra L., Jozwiak, Sergiusz, Franz, David Neal, Roberts, Penelope S., Nieto, Andres, Chung, Joon, Choy, Yew-Sing, Reeve, Mary Pat, Thiele, Elizabeth, Egelhoff, John C., Kasprzyk-Obara, Jolanta, Domanska-Pakiela, Dorota, Kwiatkowski, David J.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2001
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234935/
https://ncbi.nlm.nih.gov/pubmed/11112665
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