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Germ-line mosaicism in tuberous sclerosis: how common?

Two-thirds of cases of tuberous sclerosis complex (TSC) are sporadic and usually are attributed to new mutations, but unaffected parents sometimes have more than one affected child. We sought to determine how many of these cases represent germ-line mosaicism, as has been reported for other genetic d...

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Библиографические подробности
Главные авторы: Rose, V M, Au, K S, Pollom, G, Roach, E S, Prashner, H R, Northrup, H
Формат: Artigo
Язык:Inglês
Опубликовано: 1999
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377822/
https://ncbi.nlm.nih.gov/pubmed/10090883
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