H
H Z Jorens
Publications - 1
Citations - 254
H Z Jorens is an academic researcher. The author has contributed to research in topics: Mutation (genetic algorithm) & Anticipation (genetics). The author has an hindex of 1, co-authored 1 publications receiving 247 citations.
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The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm
Edwin Reyniers,L Vits,K. De Boulle,B. Van Roy,D. van Velzen,E. de Graaff,Anton Verkerk,H Z Jorens,John K. Darby,Ben A. Oostra +9 more
TL;DR: Study of FMR–1 in sperm of four male fragile X patients showed that only the premutation was present in their sperm, although they had a full mutation in peripheral lymphocytes, which might suggest that expansion of the premutations to the full mutations in FMR-1 does not occur in meiosis but in a postzygotic stage.