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Plasma measurement of 7‐dehydrocholesterol to detect carriers of Smith–Lemli–Opitz syndrome
Author(s) -
Nowaczyk Małgorzata J. M.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(200002)20:2<168::aid-pd749>3.0.co;2-c
Subject(s) - geneticist , smith–lemli–opitz syndrome , pediatrics , citation , medicine , library science , philosophy , computer science , genetics , physics , biology , 7 dehydrocholesterol reductase , nuclear magnetic resonance , reductase , enzyme