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Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome

✍ Scribed by Suzanne Marcus; Ernst Christensen; Gunilla Malm

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 515 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020608

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by C. Thomas Caskey

We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA.

Three of the mutations affect splicing of exons 1, 2, and 9, respectively, while two are missense mutations in exons 3 and 8. All 5 mutations result in profound hprt deficiency as measured in fibroblast lysates. However, small differences in the clinical phenotype are seen between the patients. All these mutations are unique and have not been reported previously. o 1993 Wiley-Liss, Inc.

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