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Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

✍ Scribed by Luisa Arrabal; Libertad Teresa; Rocío Sánchez-Alcudia; Margarita Castro; Celia Medrano; Luis Gutiérrez-Solana; Susana Roldán; Aida Ormazábal; Celia Pérez-Cerdá; Begoña Merinero; Belén Pérez; Rafael Artuch; Magdalena Ugarte; Lourdes R. Desviat

Book ID: 106257371
Publisher: Springer
Year: 2011
Tongue: English
Weight: 267 KB
Volume: 12
Category: Article
ISSN: 1364-6745
DOI: 10.1007/s10048-011-0279-4

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