| Autor: |
Lightfoot, Therese, Joshi, Rahul, Nuki, George, Snyder, Floyd |
| Zdroj: |
Human Genetics; 1992, Vol. 88 Issue 6, p695-696, 2p |
| Abstrakt: |
The change in DNA responsible for partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in three brothers has been determined by polymerase chain amplification and sequencing. An A-to-G substitution at base 155 in exon 3 predicts a change in aspartic acid 52 to glycine. Allele-specific polymerase chain amplification verified the presence of the mutation in genomic DNA and provides a means of direct diagnostic assay. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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