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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1992
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015984/
https://ncbi.nlm.nih.gov/pubmed/1619631
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