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Saviour siblings: using preimplantation genetic diagnosis for tissue typing

✍ Scribed by Guido Pennings

Book ID
116536174
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
79 KB
Volume
1266
Category
Article
ISSN
0531-5131

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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