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Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene

✍ Scribed by Irene Marcos; Agustín Ruiz; Salud Borrego; Guillermo Antiñolo


Book ID
102262158
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
19 KB
Volume
17
Category
Article
ISSN
1059-7794

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✦ Synopsis


Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene


📜 SIMILAR VOLUMES


Splicing mutations, mainly IVS6-1(G>T),
✍ J.A. Arranz; F. Piñol; L. Kozak; C. Pérez-Cerdá; B. Cormand; M. Ugarte; E. Riudo 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB 👁 1 views

Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutat