Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Ninety patients with tuberous-sclerosis complex (TSC) were tested for subtle mutations in the TSC2 gene, by means of single-strand conformational analysis (SSCA) of genomic DNA. Patients included 56 sporadic cases and 34 familial probands. For all patients, SSCA was performed for each of the 41 exon...

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Detalhes bibliográficos
Main Authors: Au, K S, Rodriguez, J A, Finch, J L, Volcik, K A, Roach, E S, Delgado, M R, Rodriguez, E, Northrup, H
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376882/
https://ncbi.nlm.nih.gov/pubmed/9463313
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