Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis (Q28143844)
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scientific article (publication date: 13 November 2000)
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis |
scientific article (publication date: 13 November 2000) |
Statements
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis (English)
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13 November 2000
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95
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2
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174-7
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