Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome

Aaron L. Carrel,Suzanne Huber,David B. Allen,Karl V. Voelkerding

Molecular Diagnosis（1999）

引用 14|浏览9

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摘要

Conclusions : Loss of SNRPN expression appears to be a consistent finding in PWS. Expression analysis of SNRPN offers a novel approach for the diagnostic evaluation of PWS that is robust and can be performed in a single day.

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关键词

Prader-Willi syndrome,reverse transcription,polymerase chain reaction,molecular diagnosis

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