Article
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Brain : a journal of neurology - 1 May 2014
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
Abstract excerpt
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-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes...
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