Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical cou...

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Main Authors: Herholz, Jana, Meloni, Alessandra, Marongiu, Mara, Chiappe, Francesca, Deiana, Manila, Herrero, Carmen Roche, Zampino, Giuseppe, Hamamy, Hanan, Zalloum, Yusra, Waaler, Per Erik, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2011
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083629/
https://ncbi.nlm.nih.gov/pubmed/21326283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.253
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