Clinical, cytogenetic, and molecular analysis of three families with FRAXE.

The probe StB12.3 has been used to screen the FMR-1 gene in 42 pedigrees with a distal Xq fragile site for expansion of the CCG repeat and aberrant methylation of the FRAXA locus. Four families did not have a FRAXA mutation and were investigated further. Fluorescent in situ hybridisation (FISH) and...

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Главные авторы: Barnicoat, A J, Wang, Q, Turk, J, Green, E, Mathew, C G, Flynn, G, Buckle, V, Hirst, M, Davies, K, Bobrow, M
Формат: Artigo
Язык:Inglês
Опубликовано: 1997
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050840/
https://ncbi.nlm.nih.gov/pubmed/9032643
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