Tohoku J Exp Med. 1990 Jan;160(1):93-4.

Probable assignment of the dihydropteridine reductase gene to 4p15.31.

Sumi S, Ishikawa T, Ito Y, Oishi H, Asai K, Wada Y.

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Department of Pediatrics, Nagoya City University Medical School.

Abstract

We report the dihydropteridine reductase (DHPR) activity in cases with interstitial deletion of the short arm of chromosome 4. Case 1 with the segment 4p15.32-4p16 deleted has normal DHPR activity. Case 2 with 4p15.2-4p15.32 deleted has reduced DHPR activity, less than 50% of normal.

PMID:: 2330583; [PubMed - indexed for MEDLINE]

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Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization. [Genomics. 1987]
Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.
Brown RM, Dahl HH. Genomics. 1987 Sep; 1(1):67-70.
Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism. [Clin Genet. 1990]
Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism.
Ishikawa T, Sumi S, Fujimoto S, Shima Y, Wada Y. Clin Genet. 1990 Oct; 38(4):314-7.
Structure and expression of human dihydropteridine reductase. [Proc Natl Acad Sci U S A. 1987]
Structure and expression of human dihydropteridine reductase.
Lockyer J, Cook RG, Milstien S, Kaufman S, Woo SL, Ledley FD. Proc Natl Acad Sci U S A. 1987 May; 84(10):3329-33.
Review Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. [Am J Med Genet. 1995]
Review Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H. Am J Med Genet. 1995 Jan 16; 55(2):147-54.
Review Molecular basis of dihydropteridine reductase deficiency. [Hum Mutat. 1995]
Review Molecular basis of dihydropteridine reductase deficiency.
Smooker PM, Cotton RG. Hum Mutat. 1995; 5(4):279-84.

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Probable assignment of the dihydropteridine reductase gene to 4p15.31.
Probable assignment of the dihydropteridine reductase gene to 4p15.31.
Tohoku J Exp Med. 1990 Jan ;160(1):93-4.

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