{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T20:13:27Z","timestamp":1775938407940,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["PROMETEO\/2018\/135"],"award-info":[{"award-number":["PROMETEO\/2018\/135"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/00147"],"award-info":[{"award-number":["PI18\/00147"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Wilson's disease (WD) is an autosomal recessive disorder caused by\n                    <jats:italic>ATP7B<\/jats:italic>\n                    mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions\/duplications by MLPA (multiplex ligation\u2010dependent probe amplification). Biallelic\n                    <jats:italic>ATP7B<\/jats:italic>\n                    mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound heterozygous for mutations in\n                    <jats:italic>CCDC115<\/jats:italic>\n                    , which is involved in a form of congenital disorder of glycosylation. In sum, the majority of patients with a WD phenotype carry\n                    <jats:italic>ATP7B<\/jats:italic>\n                    mutations. However, if genetic diagnosis is not achieved, additional genes should be considered because other disorders may mimic WD.\n                  <\/jats:p>","DOI":"10.1111\/cge.13719","type":"journal-article","created":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T07:24:15Z","timestamp":1581405855000},"page":"758-763","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Genetics of Wilson disease and Wilson\u2010like phenotype in a clinical series from eastern Spain"],"prefix":"10.1111","volume":"97","author":[{"given":"Ana","family":"S\u00e1nchez\u2010Monteagudo","sequence":"first","affiliation":[{"name":"Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF)  Valencia Spain"},{"name":"Rare Diseases Joint Unit CIPF\u2010IIS La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"\u00c1lvarez\u2010Sauco","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital General Universitari d'Elx  Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Sastre","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Mart\u00ednez\u2010Torres","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Lupo","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF)  Valencia 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