2. Academic Validation
  3. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

  • Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350.
Raffaele Badolato,  Alberto Prandini,  Sonia Caracciolo,  Francesca Colombo,  Giovanna Tabellini,  Mauro Giacomelli,  Maria E Cantarini,  Andrea Pession,  Callum J Bell,  Darrell L Dinwiddie,  Neil A Miller,  Shannon L Hateley,  Carol J Saunders,  Lu Zhang,  Gary P Schroth,  Alessandro Plebani,  Silvia Parolini,  Stephen F Kingsmore
PMID: 22461475 DOI: 10.1182/blood-2012-01-404350
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