Experience with direct molecular diagnosis of fragile X.

The utility of the pfxa3 probe for direct molecular diagnosis of the fragile X (FRAXA) has been established. This probe detects amplification of an unstable DNA element consisting of variable length CCG repeats. The size of the amplified fragment is correlated with phenotype and was determined using...

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Bibliografiska uppgifter
Huvudupphovsmän: Mulley, J C, Yu, S, Gedeon, A K, Donnelly, A, Turner, G, Loesch, D, Chapman, C J, Gardner, R J, Richards, R I, Sutherland, G R
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1992
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015984/
https://ncbi.nlm.nih.gov/pubmed/1619631
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