✦ LIBER ✦

DHCR7 mutations in Brazilian Smith–Lemli–Opitz syndrome patients

✍ Scribed by F.B. Scalco; L.S. Correa-Cerro; C.A. Wassif; F.D. Porter; D. Moretti-Ferreira

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 75 KB
Volume: 136A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30810

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel 7-DHCR mutation in a child with Sm

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

✍ Patrono, C.; Rizzo, C.; Tessa, A.; Giannotti, A.; Borrelli, P.; Carrozzo, R.; Pi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the

DHCR7 genotypes of cousins with Smith-Le

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome

✍ Nowaczyk, Ma?gorzata J.M. ;Heshka, Timothy ;Eng, Barry ;Feigenbaum, Annette J. ; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views

DHCR7 mutation carrier rates and prevale

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?

✍ Małgorzata J.M. Nowaczyk; John S. Waye; James D. Douketis 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB 👁 2 views

De novo mutation of the DHCR7 gene in a

De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome

✍ John S. Waye; Barry Eng; Murray A. Potter; Małgorzata J.M. Nowaczyk; Deborah McF 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB 👁 1 views

Novel mutation in the ?7-dehydrocholeste

Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

✍ Evans, Timothy ;Poh, Alisa ;Webb, Charlotte ;Wainwright, Brandon ;Wicking, Carol 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 2 views

Founder effect for the T93MDHCR7 mutatio

Founder effect for the T93MDHCR7 mutation in Smith-Lemli-Opitz syndrome

✍ Nowaczyk, Ma?gorzata J.M. ;Martin-Garcia, Diana ;Aquino-Perna, Angel ;Rodriguez- 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 1 views