A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay.

Abstract excerpt

BACKGROUND: Werner syndrome (WS) is a rare autosomal recessive progeroid disorder caused by mutations of the WRN gene encoding a protein of the RecQ-type family of DNA helicases. OBJECTIVES: To develop a rapid and simple reverse transcription-polymerase chain reaction (RT-PCR) strategy for mutation analysis of the WRN gene, to identify pathogenic mutations in a German patient with WS and to determine the effects...

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