To approve Prader-Willi syndrome by molecular diagnostic assay, polymerase chain reaction of reverse-transcribed RNA was introduced by which indirect information can be gained on all known forms of the mutation. In this pilot study, 4 patients and 16 healthy control individuals were examined. Although the different mutation forms can not directly by identified by this approach, it is a useful and reliable test to confirm the clinical diagnosis of the Prader-Willi syndrome, and to screen for the syndrome in patients who present with only a few typical features.
|Number of pages||3|
|Publication status||Published - júl. 12 1998|
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