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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
Témata:
Review Articles
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky