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Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

✍ Scribed by Belén Pérez; Lourdes R. Desviat; Paulino Gómez-Puertas; Aurora Martínez; Rymond C. Stevens; Magdalena Ugarte


Book ID
116987671
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
375 KB
Volume
86
Category
Article
ISSN
1096-7192

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## Abstract __SOX10__ is a member of the __SOX__ gene family related by homology to the high‐mobility group (HMG) box region of the testis‐determining gene __SRY__. Mutations of the transcription factor gene __SOX10__ lead to Waardenburg‐Hirschsprung syndrome (Waardenburg‐Shah syndrome, WS4) in hum