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Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

✍ Scribed by Gert Rijksen; Gerard E. J. Staal; Margreet J. M. Vlist; Frits A. Beemer; Jaap Troost; Wolf Gutensohn; Jan P. R. M. Laarhoven; Chris H. M. M. Bruyn


Publisher
Springer
Year
1981
Tongue
English
Weight
919 KB
Volume
57
Category
Article
ISSN
0340-6717

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Duplication in the hypoxanthine phosphor
✍ Suzanne Marcus; Dennis Hellgren; Bo Lambert; Sven Petter FΓ€llstrΓΆm; Jan WahlstrΓΆ πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 582 KB

We have determined the structure, at the nucleotide sequence level, of a duplication in the hprt gene in a patient with Lesch-Nyhan syndrome (LN). The duplication extends over exons 7 and 8 and approximately 1.8 kb of the surrounding hprt sequence. The duplication junction is localized within two Al