A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 19, Issue 5, 1996, Pages 645-654

  Vreken, P ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; THYMINE; URACIL;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; DONOR SITE; ENZYME DEFICIENCY; EXON; GENE DELETION; HUMAN; INTRON; NETHERLANDS; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS;

EID: 0029792709     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799841     Document Type: Article

References (31)

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