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Article

Expression of the fragile-X in the "premutated"/"non-imprinted" state.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1992

Bilas R, Wilhelm D, Schwinger E, Chudley A E, Fryns J P, Howard-Peebles P N, Schinzel A, Van Roy B, Webb T

Abstract excerpt

Data about the expression of the fragile site at Xq27.3 from 74 daughters of normal transmitting males (NTMs) were collected from 7 different genetic centers. The majority (85.1%) of these obligate female carriers did not show any cytogenetic expression of fra-X. The remaining 14.9% of these females had frequencies below 3%. In cases with a frequency below 3% of fra-X, a "premutated"/"non imprinted" state of a...

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Share to Polymorphism, Restriction Fragment Length

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PMID: 1361753

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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