High rate of mosaicism in tuberous sclerosis complex.

Six families with mosaicism are identified in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2. In five families, somatic mosaicism was present in a mildly affected parent of an index patient. In one family with clinically unaff...

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Detaylı Bibliyografya
Asıl Yazarlar: Verhoef, S, Bakker, L, Tempelaars, A M, Hesseling-Janssen, A L, Mazurczak, T, Jozwiak, S, Fois, A, Bartalini, G, Zonnenberg, B A, van Essen, A J, Lindhout, D, Halley, D J, van den Ouweland, A M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1999
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377905/
https://ncbi.nlm.nih.gov/pubmed/10330349
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