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Article

Preimplantation diagnosis of Lesch-Nyhan using mini-sequencing primer extension.

Reproductive biomedicine online - 1 Oct 2003

Cram D S, Song B, Trounson A O

Abstract excerpt

Lesch-Nyhan syndrome (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, spasticity, mental retardation and self-mutilation. The disorder is caused by a wide spectrum of mutations distributed throughout the hypoxanthine phosphoribosyltransferase (HPRT) gene. Female carriers of LN display no clinical symptoms but are at 50% risk of passing on the affected gene to their...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14653897
DOI: 10.1016/s1472-6483(10)61875-5

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PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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