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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1992
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015984/
https://ncbi.nlm.nih.gov/pubmed/1619631
Tagiau: Ychwanegu Tag
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