Concepedia

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 González Gutiérrez-Solana, S. Roldán, Aída Ormazábal, Celia Pérez‐Cerdá, B. Merinero,

Neurogenetics · 2011 · 37 citations · 28 references

DOI

Concepts

References

28

Tetrahydrobiopterin biosynthesis, regeneration and functions

Beat Thöny, Günter Auerbach, Nenad Blau · Biochemical Journal · 2000 · 857 citations · Full text

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Analysis of reduced forms of biopterin in biological tissues and fluids

Takeshi Fukushima, J. C. Nixon · Analytical Biochemistry · 1980 · 715 citations

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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

Michael Krawczak, Nick Thomas, Bernd Hundrieser et al. · Human Mutation · 2006 · 368 citations

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Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Luisa Bonafé, Beat Thöny, Johann Penzien et al. · The American Journal of Human Genetics · 2001 · 237 citations · Full text

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Cerebral folate deficiency

V. Ramaekers, Nenad Blau · Developmental Medicine & Child Neurology · 2004 · 199 citations · Full text

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