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Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F. Herholz J, et al. Among authors: herrero cr. Eur J Hum Genet. 2011 May;19(5):525-33. doi: 10.1038/ejhg.2010.253. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326283 Free PMC article.
A bacteraemia risk prediction model: development and validation in an emergency medicine population.
Julián-Jiménez A, González Del Castillo J, García-Lamberechts EJ, Huarte Sanz I, Navarro Bustos C, Rubio Díaz R, Guardiola Tey JM, Llopis-Roca F, Piñera Salmerón P, de Martín-Ortiz de Zarate M, Álvarez-Manzanares J, Gamazo-Del Rio JJ, Álvarez Alonso M, Mora Ordoñez B, Álvarez López O, Ortega Romero MDM, Sousa Reviriego MDM, Perales Pardo R, Villena García Del Real H, Marchena González MJ, Ferreras Amez JM, González Martínez F, Martín-Sánchez FJ, Beneyto Martín P, Candel González FJ, Díaz-Honrubia AJ; INFURG-SEMES investigators. Julián-Jiménez A, et al. Infection. 2022 Feb;50(1):203-221. doi: 10.1007/s15010-021-01686-7. Epub 2021 Sep 6. Infection. 2022. PMID: 34487306