Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

(2012) Ai-Hua Wei et al.   Pigment Cell & Melanoma Research

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

(2011) B. Jessen et al.   BLOOD

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management

(2011) C. Gholam et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis

(2010) Rachel D. Wheeler et al.   BRITISH JOURNAL OF HAEMATOLOGY

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

(2010) V. Cetica et al.   JOURNAL OF MEDICAL GENETICS

Novel mutation causing Hermansky-Pudlak Syndrome Type 2

(2010) Pei-Wen Chiang et al.   PEDIATRIC BLOOD & CANCER

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

(2009) M. Wenham et al.   HAEMATOLOGICA