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

Neurogenetics

Volumn 12, Issue 3, 2011, Pages 183-191

  Arrabal, Luisa ^a   Teresa, Libertad ^b,c   Sánchez Alcudia, Rocío ^b,c   Castro, Margarita ^b,c   Medrano, Celia ^b,c   Gutiérrez Solana, Luis ^d   Roldán, Susana ^a   Ormazábal, Aida ^c,e   Pérez Cerdá, Celia ^b,c   Merinero, Begoña ^b,c   Pérez, Belén ^b,c   Artuch, Rafael ^c,e   Ugarte, Magdalena ^b,c   Desviat, Lourdes R ^b,c  

^a HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Dopa responsive dystonia; Genotype phenotype; Neurotransmitter deficiency; Sepiapterin reductase; Splicing mutation

Indexed keywords

5 HYDROXYTRYPTOPHAN; CARBIDOPA PLUS LEVODOPA; PHENYLALANINE; SEPIAPTERIN REDUCTASE; TETRAHYDROBIOPTERIN; TRYPTOPHAN HYDROXYLASE; TYROSINE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CIRCADIAN RHYTHM; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; NEUROTRANSMISSION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEPIAPTERIN REDUCTASE DEFICIENCY; SPAIN; SPLICING DEFECT; SPR GENE;

ADOLESCENT; ALCOHOL OXIDOREDUCTASES; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; ISOENZYMES; METABOLISM, INBORN ERRORS; MUTANT PROTEINS; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 80052767371     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0279-4     Document Type: Article

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