Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. We have identified nucleotid...

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Main Authors: Gibbs, R A, Nguyen, P N, McBride, L J, Koepf, S M, Caskey, C T
Format: Artigo
Jezik:Inglês
Izdano: 1989
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC286816/
https://ncbi.nlm.nih.gov/pubmed/2928313
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