Chediak-Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder

Current Molecular Medicine

Volumn 2, Issue 5, 2002, Pages 469-477

  Ward, Diane McVey ^a   Shiflett, Shelly L ^a   Kaplan, Jerry ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOPLASM PROTEIN; LYST PROTEIN, HUMAN; LYST PROTEIN, MOUSE; PROTEIN; VESICULAR TRANSPORT PROTEIN;

ALPHA HELIX; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; AUTOSOMAL RECESSIVE DISORDER; BACTERIAL INFECTION; BLEEDING TIME; BONE MARROW TRANSPLANTATION; CAPILLARY RESISTANCE; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; CONTROLLED STUDY; EYE; GENE IDENTIFICATION; GENETIC CODE; GENETIC COMPLEMENTATION; HAIR; HUMAN; HYPOPIGMENTATION; LYMPHOCYTE PROLIFERATION; LYSOSOME STORAGE DISEASE; MOLECULAR CLONING; MOLECULAR GENETICS; MORBIDITY; MOUSE; MULTIGENE FAMILY; NATURAL KILLER CELL; NEUROLOGIC DISEASE; NONHUMAN; PERIPHERAL NEUROPATHY; PROTEIN DOMAIN; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; RECURRENT INFECTION; REVIEW; SEQUENCE ANALYSIS; SKIN; ANIMAL; BIOLOGICAL MODEL; DISEASE MODEL; GENETICS; MUTATION; PATHOLOGY;

ANIMAL; CHEDIAK-HIGASHI SYNDROME; DISEASE MODELS, ANIMAL; HUMAN; MICE; MODELS, GENETIC; MULTIGENE FAMILY; MUTATION; PROTEINS; ANIMALS; HUMANS; VESICULAR TRANSPORT PROTEINS;

ANIMALIA; BACTERIA (MICROORGANISMS);

EID: 0035990979     PISSN: 15665240     EISSN: None     Source Type: Journal    
DOI: 10.2174/1566524023362339     Document Type: Review

References (105)