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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...

詳細記述

保存先:
書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017158/
https://ncbi.nlm.nih.gov/pubmed/1757957
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