22461475Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SFBloodCarrier Proteins; Codon, Nonsense; Exome; Hermanski-Pudlak Syndrome; Immunologic Deficiency Syndromes; LectinsAdolescent; DNA Mutational Analysis; Female; Humans; Killer Cells, Natural; Sequence Analysis, DNABadolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood. 2012 Mar 29; 119(13):3185-7.Blood2012-03-29T00:00:002012Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.prns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAuthorshipvivo:hasSubjectAreahas subject areaInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedInformationResourcelinked information resourcerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptD007694Anatomy8120.990137Killer Cells, NaturalD017422Procedures301150.947191Sequence Analysis, DNAD018389Chemicals & DrugsPhysiology560.99666Codon, NonsenseD022861Disorders110.998946Hermanski-Pudlak SyndromeD037102Chemicals & Drugs220.99934LectinsD059472Genes & Molecular Sequences15410.98483ExomeD000293Living Beings10621370.61882AdolescentAuthorship 64370.2178030.2178031authors10.2512has subject areaD002352Chemicals & Drugs16320.978677Carrier ProteinsD004252Procedures16390.986402DNA Mutational AnalysisD005260Physiology11835990.534568FemaleD006801Living Beings12067970.397999HumansD007153Disorders790.98946Immunologic Deficiency Syndromes