Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

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Bibliographic Details
Published in:Human mutation 1998, Vol.Suppl 1, p.S85-S87
Main Authors: Verhoef, S, Vrtel, R, Bakker, L, Stolte-Dijkstra, I, Nellist, M, Begeer, J H, Zaremba, J, Jozwiak, S, Tempelaars, A M, Lindhout, D, Halley, D J, van den Ouweland, A M
Format: Article
Language:English
Subjects:
Adolescent
Adult
Base Sequence
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Family Health
Female
GTPase-Activating Proteins
Humans
Male
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational
Protein Structure, Tertiary
Proteins - genetics
Repressor Proteins - chemistry
Repressor Proteins - genetics
Sequence Deletion
Tuberous Sclerosis - genetics
Tumor Suppressor Proteins
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ISSN:1059-7794