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Dobkin, C., Ding, S., & Nolin, S. (1994). Extreme variation between blood and fibroblast DNA patterns in mosaic fragile X males. American Journal of Human Genetics, 55(CONF-941009-).
Dobkin, C., S. Ding, and S. Nolin. "Extreme variation between blood and fibroblast DNA patterns in mosaic fragile X males." American Journal of Human Genetics 55.CONF-941009- (1994).
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C Dobkin, S Ding, S Nolin - American Journal of Human Genetics, 1994 - osti.gov

Extreme variation between blood and fibroblast DNA patterns in mosaic fragile X males.

STEM and males

Nolin

GSID: lPMzk1bbQPMJ

Excerpt

The fragile X mutation is the expansion of a CGG repeat in the 5 {prime} untranslated region of the FMR-1 gene to> 200 repeats. This expansion to the {open_quotes} full mutation {close_quotes} probably occurs during early embryogenesis in individuals who inherit a {open_quotes} premutation {close_quotes} allele containing> 50 and< 200 repeats. Analysis of blood samples from a series of 148 fragile X males showed that 40% were {open_quotes} mosaics {close_quotes} who carried a mixture of premutation and full mutation alleles. The …

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