{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T07:12:02Z","timestamp":1768979522124,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,9,10]],"date-time":"2002-09-10T00:00:00Z","timestamp":1031616000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:p>OBJECTIVE:\u2002To use molecular genetics to establish themode of inheritance in a family with amelogenesis imperfecta.<\/jats:p><jats:p>MATERIALS AND METHODS:\u2002The polymerase chain reaction was used to amplify exons of the amelogenin gene on the short arm of the X chromosome.<\/jats:p><jats:p>RESULTS:\u2002A single base deletion mutation in exon 6 of the amelogenin gene was identified. This mutation was a single base deletion of a cytosine residue \u2013 431delC \u2013 in codon 96 of exon 6, introducing a stop codon 30 codons downstream of the mutation in codon 126 of the exon.<\/jats:p><jats:p>CONCLUSION:\u2002The firm establishment of an X\u2010linked mode of inheritance affects the genetic counselling for this family.<\/jats:p>","DOI":"10.1034\/j.1601-0825.2002.02835.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T15:45:59Z","timestamp":1047483959000},"page":"249-253","source":"Crossref","is-referenced-by-count":4,"title":["Molecular analysis for genetic counselling in amelogenesis 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