Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype

Platelets

Volumn 24, Issue 7, 2013, Pages 538-543

  Kurnik, Karin ^a   Bartsch, Ingrid ^b   Maul Pavicic, Andrea ^c   Ehl, Stephan ^b,c   Sandrock Lang, Kirstin ^b   Bidlingmaier, Christoph ^a   Rombach, Nina ^b   Busse, Anja ^b   Belohradsky, Bernd H ^a   Müller Höcker, Josef ^d   Aslanidis, Charalampos ^e   Schmitz, Gerd ^e   Zieger, Barbara ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

Hermansky Pudlak syndrome; HPS2; immunodeficiency; novel mutation; platelet secretion defect

Indexed keywords

CD63 ANTIGEN; THROMBIN;

ANTIGEN EXPRESSION; AP3B1 GENE; ARTICLE; BLEEDING; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CYTOLYSIS; CYTOTOXIC T LYMPHOCYTE; DEGRANULATION; ELECTRON MICROSCOPY; EXON; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; GRANULOCYTOPENIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MOLECULAR GENETICS; NATURAL KILLER CELL; NEUTROPENIA; OCULAR ALBINISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTE DISORDER; THROMBOCYTE FUNCTION; TONSILLECTOMY;

BLOOD PLATELETS; CHILD; FEMALE; GENOTYPE; HERMANSKI-PUDLAK SYNDROME; HUMANS; MUTATION; PHENOTYPE;

EID: 84884809179     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.3109/09537104.2012.741275     Document Type: Article

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