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Disruption of the Hypoxanthine‐Guanine Phosphoribosyl‐Transferase Gene Caused by a Translocation in a Patient with Lesch‐Nyhan Syndrome

✍ Scribed by Mizunuma, Makiko; Yamada, Yasukazu; Yamada, Kenichiro; Sonta, Shin‐Ichi; Wakamatsu, Nobuaki; Kaneko, Kiyoko; Ogasawara, Nobuaki; Fujimori, Shin


Book ID
126844446
Publisher
Taylor and Francis Group
Year
2004
Tongue
English
Weight
132 KB
Volume
23
Category
Article
ISSN
0732-8311

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Duplication in the hypoxanthine phosphor
✍ Suzanne Marcus; Dennis Hellgren; Bo Lambert; Sven Petter Fällström; Jan Wahlströ 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 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