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A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

✍ Scribed by RP Cotarelo; O Fano; M Raducu; A Peña; P Tarilonte; F Mateos; R Simón; A Cabello; J Cruces

Book ID: 110888801
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 703 KB
Volume: 76
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2009.01188.x

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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

✍ Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Cel 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 741 KB