𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome

✍ Scribed by Sophie C. Currier; Christine K. Lee; Bernard S. Chang; Adria L. Bodell; G. Shashidhar Pai; Leela Job; Lieven G. Lagae; Lihadh I. Al-Gazali; Wafaa M. Eyaid; Greg Enns; William B. Dobyns; Christopher A. Walsh


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
144 KB
Volume
133A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Detection of mutations in COL4A5 in pati
✍ Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 322 KB 👁 2 views

Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation

Mutational screening of the CYP26A1 gene
✍ Patrizia De Marco; Elisa Merello; Samantha Mascelli; Alessandro Raso; Andrea San 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 331 KB 👁 2 views

## Abstract ## BACKGROUND The retinoic acid (RA)–catabolizing enzyme Cyp26a1 plays an important role in protecting tailbud tissues from inappropriate exposure to RA. __Cyp26a1__‐null animals exhibit caudal agenesis and spina bifida, imperforate anus, agenesis of the caudal portions of the digestiv

Sodium channel abnormalities are infrequ
✍ Wattanasirichaigoon, Duangrurdee; Vesely, Mark R.; Duggal, Priya; Levine, Jami C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 2 views

Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a