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Successful application of preimplantation genetic diagnosis for Leigh syndrome

✍ Scribed by Evrim Ünsal; Yasemin Aktaş; Özge Üner; Aysun Baltacı; Sarp Özcan; Feriba Turhan; Volkan Baltaci

Book ID
116473300
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
103 KB
Volume
90
Category
Article
ISSN
1556-5653

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Successful preimplantation genetic diagn
Successful preimplantation genetic diagnosis for sex linked Lesch–Nyhan syndrome using specific diagnosis
✍ Pierre F. Ray; Joyce C. Harper; Asangla Ao; Deborah M. Taylor; Robert M. L. Wins 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 2 views

Lesch-Nyhan syndrome (LN) is a severe X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine phosphoribosyl transferase (HPRT). Clinical features displayed by affected boys are particularly severe and disturbing and include hyperuricaemia, characteristic neurological features