Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome (Q28203881)

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scientific article (publication date: May 2001)
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Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome
scientific article (publication date: May 2001)

    Statements

    Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome (English)
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    P E Jira
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    R J Wanders
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    J A Smeitink
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    J De Jong
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    R A Wevers
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    W Oostheim
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    J H Tuerlings
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    R C Hennekam
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    R C Sengers
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    H R Waterham
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    May 2001
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    65
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    Pt 3
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    229-36
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