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JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.

Gigliola Di MatteoMaria ChiriacoAlessia ScarselliCristina CifaldiSusanna LivadiottiSilvia Di CesareValentina FerradiniAlessandro AiutiPaolo RossiAndrea FinocchiCaterina Cancrini
Published in: Molecular genetics & genomic medicine (2018)
Different molecular techniques are still required to obtain a definitive diagnosis of AR-SCID particularly in all cases in which a monoallelic mutation is found by standard mutation scanning methods.
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