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Molecular basis of dihydropteridine reductase deficiency
Author(s) -
Smooker Peter M.,
Cotton Richard G. H.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050402
Subject(s) - biology , point mutation , genetics , rna splicing , mutation , complementary dna , computational biology , gene , rna
The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcripts. The application of the mutation identification to diagnostics and clinical treatment is discussed. © 1995 Wiley‐Liss, Inc.
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