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Molecular Analysis of Phenylketonuria in Denmark: 99% of the Mutations Detected by Denaturing Gradient Gel Electrophoresis

✍ Scribed by Per Guldberg; Karen Friis Henriksen; Flemming Güttler

Book ID
115611664
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
466 KB
Volume
17
Category
Article
ISSN
0888-7543

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✍ S Greber-Platzer; P Guldberg; S Scheibenreiter; C Item; E Schuller; N Patel; W S 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB 👁 1 views

Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequ