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Werner's syndrome (WS), also called adult progeria, is an inherited, autosomal recessive disorder that is most common in families from regions of Japan where consanguineous marriages occur frequently. WS is characterized by premature aging and the early onset of age-related diseases and commonly results in cancer. The gene responsible for Werner's syndrome, WRN, has been mapped to the short arm of chromosome 8, and the subsequent cloning of the gene has reveled a predicted protein of 1,432 amino acids in length that bears significant sequence homology with DNA helicases. Four mutations in WRN have been identified in patients afflicted with WS. Two of the mutations involve mRNA splice-junctions. Of these two mutations, one was found in 60% of the individuals examined. This mutation is predicted to cause a frameshift which results in a truncated WRN protein.
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Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps WRN (F-33) | sc-101110 | 100 µg/ml | $333.00 |