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- W85753443 abstract "New mechanisms of inheritance are described and illustrated in neurologic disorders such as Duchenne muscular dystrophy, Charcot-Marie-Tooth disease, Prader-Willi syndrome, fragile X syndrome, Steinert myotonic dystrophy, and Zellweger syndrome. Novel genetic mechanisms include contiguous gene deletion, somatic mosaicism, genomic imprinting, triplet repeat expansion, and assembly disorders that violate the one-gene-one- enzyme hypothesis." @default.
- W85753443 created "2016-06-24" @default.
- W85753443 creator A5048496567 @default.
- W85753443 date "1994-11-01" @default.
- W85753443 modified "2023-09-27" @default.
- W85753443 title "Atypical Inheritance" @default.
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- W85753443 doi "https://doi.org/10.1016/s0733-8619(18)30070-7" @default.
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