Genotype prediction in the fragile X syndrome.

Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis of affected males and female carriers and the...

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Main Authors: Hirst, M C, Nakahori, Y, Knight, S J, Schwartz, C, Thibodeau, S N, Roche, A, Flint, T J, Connor, J M, Fryns, J P, Davies, K E
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017158/
https://ncbi.nlm.nih.gov/pubmed/1757957
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