Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders
Jana Herholz,
Alessandra Meloni,
Mara Marongiu,
Francesca Chiappe,
Manila Deiana,
Carmen Roche Herrero,
Giuseppe Zampino,
Hanan Hamamy,
Yusra Zalloum,
Per Erik Waaler,
European Journal of Human Genetics · 2011 · 41 citations · 26 references