Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism

Blood

Volumn 96, Issue 13, 2000, Pages 4227-4235

  Gwynn, Babette ^b   Ciciotte, Steven L ^b   Hunter, Susan J ^b   Washburn, Linda L ^b   Smith, Richard S ^b   Andersen, Sabra G ^b   Swank, Richard T ^b   Dell'Angelica, Esteban C ^b   Bonifacino, Juan S ^b   Eicher, Eva M ^b   Peters, Luanne L ^a  

^a JACKSON LABORATORY   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ALPHA ADAPTIN; CLATHRIN ASSEMBLY PROTEIN; CLATHRIN ASSEMBLY PROTEIN AP180; HPS1 PROTEIN, HUMAN; HPS1 PROTEIN, MOUSE; LIPOFUSCIN; MEMBRANE PROTEIN; SEROTONIN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ANIMAL; ANIMAL MODEL; ARTICLE; BLOOD; C3H MOUSE; CHEMISTRY; CHROMOSOME MAP; COMPARATIVE STUDY; DISEASE MODEL; ENZYMOLOGY; EYE; GENE; GENETIC HETEROGENEITY; GENETICS; HAIR COLOR; HUMAN; KIDNEY; LIVER; LYSOSOME; MELANOSOME; METABOLISM; MOUSE; MOUSE MUTANT; OCULAR ALBINISM; PATHOLOGY; PHENOTYPE; PUERTO RICO; RECESSIVE GENE; SKIN; SPECIES DIFFERENCE; THROMBOCYTE; ULTRASTRUCTURE;

ADAPTOR PROTEIN COMPLEX ALPHA SUBUNITS; ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADENOSINE DIPHOSPHATE; ANIMALS; BLOOD PLATELETS; CHROMOSOME MAPPING; DISEASE MODELS, ANIMAL; EYE; GENES; GENES, RECESSIVE; GENETIC HETEROGENEITY; HAIR COLOR; HERMANSKI-PUDLAK SYNDROME; HUMANS; KIDNEY; LIPOFUSCIN; LIVER; LYSOSOMES; MELANOSOMES; MEMBRANE PROTEINS; MICE; MICE, INBRED C3H; MICE, MUTANT STRAINS; MODELS, ANIMAL; MONOMERIC CLATHRIN ASSEMBLY PROTEINS; PHENOTYPE; PUERTO RICO; SEROTONIN; SKIN; SPECIES SPECIFICITY;

EID: 0034672242     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.13.4227     Document Type: Article

References (17)

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