DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT
Chinese Medical Sciences JournalIssue 1, (1994)
Updated:2024-04-10
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DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT
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CLC:R363
Published:1994
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[1]许卫明,王菁,华小云,杜传书.DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT[J].Chinese Medical Sciences Journal,1994(01):20-23.
DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT[J]. Chinese medical sciences journal, 1994, (1).
[1]许卫明,王菁,华小云,杜传书.DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT[J].Chinese Medical Sciences Journal,1994(01):20-23.DOI:
DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT[J]. Chinese medical sciences journal, 1994, (1).DOI:
DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT
In the past few years. a total of 6 different mutations of the G6PD gene have been reported in china. One of these
the C6 mutation (A ̄(95)→G). accounted for about 1 5. 4 % of the Chinese G6PD variants. In ordet to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene. we applied the single-strand conformation polymorphism (SSCP) technique to the detection of mutations in exon 2 of this gene. We observed four patients with abnormal migration patterns of the exon 2 bend among 20 cases of G6PD variants. Direct PCR sequencing confirmed a T to C substitution in exon 2 that has previously been reported. This procedure is therefore of particular importance for the rapid detection of mutation-containing exons in the G6PD gene.