Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

The mutation in a patient with dihydropteridine reductase deficiency has been located and characterized. Polymerase chain reaction (PCR) was used to amplify the coding sequence of human dihydropteridine reductase from the messenger RNA of skin fibroblasts. Chemical cleavage of mismatches indicated a...

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Bibliographic Details
Main Authors: Howells, D W, Forrest, S M, Dahl, H H, Cotton, R G
Format: Artigo
Language:Inglês
Published: 1990
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683733/
https://ncbi.nlm.nih.gov/pubmed/2116088
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