Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype–phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linke...

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Detalhes bibliográficos
Main Authors: Fu, Rong, Ceballos-Picot, Irene, Torres, Rosa J., Larovere, Laura E., Yamada, Yasukazu, Nguyen, Khue V., Hegde, Madhuri, Visser, Jasper E., Schretlen, David J., Nyhan, William L., Puig, Juan G., O’Neill, Patrick J., Jinnah, H. A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Review Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3999711/
https://ncbi.nlm.nih.gov/pubmed/23975452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt202
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