Genotype–phenotype correlations in sepiapterin reductase...

neurogenetics 2011 / 08 Vol. 12; Iss. 3

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

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 Ar
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Volume:
12
Language:
english
Pages:
9
DOI:
10.1007/s10048-011-0279-4
Date:
August, 2011
File:
PDF, 267 KB
english, 2011
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