Wilson disease mutations associated with uncommon haplotypes in mediterranean patients |
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| Authors: | G. Loudianos Valeria Dessì Andrea Angius Mario Lovicu Angela Loi Manila Deiana Nejat Akar Pietro Vajro Annalena Figus Antonio Cao Mario Pirastu |
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| Affiliation: | (1) Ospedale Regionale per le Microcitemie, Azienda-USL 8, Cagliari, Via Jenner, s/n, I-09100 Cagliari, Italy Tel.: +39-70 5294668-5294504; Fax: +39-70 503696, IT;(2) Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy, IT;(3) Pediatric Molecular Pathology, Ankara University, Ankara, Turkey, TR;(4) Dipartimento di Pediatria, Università di Napoli “Federico II”, Napoli, Italy, IT;(5) Istituto di Medicina Interna, Università degli Studi di Cagliari, Cagliari, Italy, IT;(6) Istituto di Clinica e Biologia dell’Età Evolutiva, Università degli studi di Cagliari, Cagliari, Italy, IT |
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| Abstract: | This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the WD locus. These mutations include two nonsense, one splice site and nine missense. The missense mutations lie in regions of the WD gene critical for its function, such as the transmembrane region, the transduction domain and the ATP loop and ATP-binding domain, indicating that they are disease-causing mutations. These new findings improve our knowledge for the role played by functional domains on the ATP7B function. Received: 20 March 1996 |
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