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Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome

TitleTwo novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome
Publication TypeArticolo su Rivista peer-reviewed
Year of Publication2002
AuthorsPatrono, Clarice, Dionisi-Vici C., Giannotti A., Bembi B., Digilio M.C., Rizzo C., Purificato C., Martini C., Pierini R., and Santorelli F.M.
JournalMolecular and Cellular Probes
Volume16
Pagination315-318
ISSN08908508
Notes

cited By 11

URLhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-18544372154&doi=10.1006%2fmcpr.2002.0426&partnerID=40&md5=9044d7269a3ae378af611cf83da47597
DOI10.1006/mcpr.2002.0426
Citation KeyPatrono2002315