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Juan Valcarcel
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Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95ΔTM), is the basis for ALPS Ia in a family with duplicated 3′ splice site AG in CD95 intron 5 on one allele

Clinical Trials & Observations
Joachim Roesler, Jose-Maria Izquierdo, Martin Ryser, Angela Rösen-Wolff, Manfred Gahr, Juan Valcarcel, Michael J. Lenardo, Lixin Zheng
Journal: Blood
Blood (2005) 106 (5): 1652–1659.
https://doi.org/10.1182/blood-2004-08-3104
Published: 2005
Includes: Supplemental data