A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

Pediatric Blood and Cancer

Volumn 56, Issue 7, 2011, Pages 1136-1139

  Kaya, Zuhre ^a   Ehl, Stephan ^b   Albayrak, Meryem ^a   Maul Pavicic, Andrea ^b   Schwarz, Klaus ^c   Kocak, Ulker ^a   Ergun, Mehmet Ali ^a   Gursel, Turkiz ^a  

^a GAZI UNIVERSITY   (Turkey)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

Chediak Higashi syndrome; LYST gene; Point mutation

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHEDIAK HIGASHI SYNDROME; CHILD; CYTOTOXICITY; DEGRANULATION; FEMALE; GENE; HAIR COLOR; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; LYST GENE; NATURAL KILLER CELL; NEUROLOGIC DISEASE; OCULOCUTANEOUS ALBINISM; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECURRENT INFECTION; SIBLING;

CHEDIAK-HIGASHI SYNDROME; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; POINT MUTATION; SIBLINGS; VESICULAR TRANSPORT PROTEINS;

EID: 79954506709     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22878     Document Type: Article

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