Publication | Closed Access
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
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Citations
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References
1998
Year
Novel Base SubstitutionMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathologyMolecular GeneticsDisease Gene IdentificationMedicineFunctional GenomicsLesch-nyhan SyndromeDeletion Events
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2013 | 5.9K | |
1991 | 1.5K | |
1964 | 1.5K | |
1967 | 478 | |
1982 | 386 | |
1990 | 354 | |
1990 | 324 | |
1995 | 301 | |
1983 | 283 | |
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Richard A. Gibbs, P N Nguyen, Lincoln J. McBride, Proceedings of the National Academy of Sciences BioinformaticsHprt-deficiency CasesDna SequencingFunctional GenomicsMendelian Disorder | 1989 | 277 |
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