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

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

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Bibliographic Details
Published in:Human mutation Vol. 11; no. S1; pp. 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.P., Lindhout, D., Halley, D.J.J., van den Ouweland, A.M.W.
Format: Journal Article
Language:English
Published: New York Wiley Subscription Services, Inc., A Wiley Company 1998
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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Bibliography:Dutch Kidney Foundation - No. C93.1313
istex:5A5B45599318FCFF5A0F4C1153C989EE4A25B7ED
ark:/67375/WNG-588P3P5G-3
Dutch Prevention Fund - No. 28-1723-1
ArticleID:HUMU1380110129
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.1380110129