Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

BMC medical genetics

Volumn 14, Issue , 2013, Pages

  Jones, Matthew L ^a   Murden, Sherina L ^b   Brooks, Claire ^b   Maloney, Viv ^b   Manning, Richard A ^b   Gilmour, Kimberly C ^b   Bharadwaj, Vandana ^b   de la Fuente, Josu ^b   Chakravorty, Subarna ^b   Mumford, Andrew D ^b  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; AP3B1 PROTEIN, HUMAN; BETA ADAPTIN; LAMP1 PROTEIN, HUMAN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1;

ARTICLE; CASE REPORT; CHROMOSOME 5; CHROMOSOME INVERSION; CYTOTOXIC T LYMPHOCYTE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETICS; HOMOZYGOTE; HUMAN; IMMUNOBLOTTING; INFANT; METABOLISM; NATURAL KILLER CELL; OCULAR ALBINISM; PATHOLOGY; PHENOTYPE; PIGMENTATION; PROTEIN SUBUNIT; SECRETION (PROCESS); THROMBOCYTE; ULTRASTRUCTURE;

ADAPTOR PROTEIN COMPLEX 3; ADAPTOR PROTEIN COMPLEX BETA SUBUNITS; BLOOD PLATELETS; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENES; HERMANSKI-PUDLAK SYNDROME; HOMOZYGOTE; HUMANS; IMMUNOBLOTTING; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KILLER CELLS, NATURAL; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; PHENOTYPE; PIGMENTATION; PROTEIN SUBUNITS; T-LYMPHOCYTES, CYTOTOXIC;

MLCS; MLOWN;

EID: 84875688885     PISSN: None     EISSN: 14712350     Source Type: None    
DOI: 10.1186/1471-2350-14-42     Document Type: Article

References (0)