Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7

M.L. Cardoso, A. Balreira, E. Martins, L. Nunes, A. Cabral, M. Marques, M.R. Lima, J.S. Marques, A. Medeira, I. Cordeiro, S. Pedro, M.C. Mota

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)228-235
JournalMolecular Genetics and Metabolism
Volume85
Issue number3
DOIs
Publication statusPublished - 2005

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