A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

✍ Scribed by Marta Ribasés; Mercedes Serrano; Emilio Fernández-Álvarez; Sandra Pahisa; Aida Ormazabal; Àngels García-Cazorla; Belén Pérez-Dueñas; Jaume Campistol; Rafael Artuch; Bru Cormand

• Book ID: 116988045
• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 259 KB
• Volume: 92
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2007.07.004