A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency-Reference-Cited by-同舟云学术

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

Published:1996-09 Issue:5 Volume:19 Page:645-654
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Vreken P.,Van Kuilenburg A. B. P.,Meinsma R.,Smit G. P. A.,Bakker H. D.,De Abreu R. A.,van Gennip A. H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF01799841

Reference31 articles.

1. Bakker HD, Rubio Gozalbo ME, van Gennip AH (1994) Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.J Inher Metab Dis 17: 640–641.

2. Bakkeren JAJM, De Abreu RA, Sengers RCA, Gabreels FJM, Maas JM, Renier WO (1984) Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency.Clin Chim Acta 140: 247–257.

3. Berger R, Stoker-De Vries SA, Wadman SK, et al (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.Clin Chim Acta 141: 227–234.

4. Braakhekke JP, Renier WO, Gabreëls FJM, De Abreu RA, Bakkeren JAJM, Sengers RCA (1987) Dihydropyrimidine dehydrogenase deficiency; neurological aspects.J Neurol Sci 78: 71–77.

5. Carstens RP, Fenton WA, Rosenberg LR (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.Am J Hum Genet 48: 1105–1114.

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