Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. (Q46388826)
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scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. |
scientific article |
Statements
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy (English)
Witsch-Baumgartner M
Clayton P
Clusellas N
Haas D
Kelley RI
Lechner S
Rossi M
Zschocke J