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An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma

✍ Scribed by Lucia Anna Muscarella; Raffaela Barbano; Bartolomeo Augello; Vincenza Formica; Lucia Micale; Leopoldo Zelante; Leonardo D’Agruma; Giuseppe Merla


Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
229 KB
Volume
52
Category
Article
ISSN
1435-232X

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An 11-bp deletion in the arylsulfatase A
✍ Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 572 KB

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts